Linked Data
ClinVar Variation Id:
100670
ClinVar RCV Id:
RCV000087070
dbSNP Id:
rs587777142
gnomAD v3:
8-67172556-G-A
gnomAD v4:
8-67172556-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67172556G>A , CM000670.2:g.67172556G>A | GRCh38 |
| NC_000008.10:g.68084791G>A , CM000670.1:g.68084791G>A | GRCh37 |
| NC_000008.9:g.68247345G>A | NCBI36 |
| NG_034100.1:g.113189G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.3034+1G>A | ENSP00000262210.6:n.3034+1G>A | |
| ENST00000521324.3:c.840+1G>A | ||
| ENST00000674993.1:c.3058+1G>A | ENSP00000502454.1:n.3058+1G>A | |
| ENST00000675306.2:c.2692+1G>A | ENSP00000502421.1:n.2692+1G>A | |
| ENST00000675869.1:c.2773+1G>A | ENSP00000502747.1:n.2773+1G>A | |
| ENST00000675955.1:c.2887+1G>A | ENSP00000501676.1:n.2887+1G>A | |
| ENST00000675990.1:n.4297+1G>A | ||
| ENST00000676113.1:c.2926+1G>A | ENSP00000501645.1:n.2926+1G>A | |
| ENST00000676317.1:c.2953+1G>A | ENSP00000502047.1:n.2953+1G>A | |
| ENST00000676471.1:c.2701+1G>A | ENSP00000503711.1:n.2701+1G>A | |
| ENST00000676573.1:c.2269+1G>A | ENSP00000504532.1:n.2269+1G>A | |
| ENST00000676605.1:c.3076+1G>A | ENSP00000503605.1:n.3076+1G>A | |
| ENST00000676804.1:c.1271+1G>A | ||
| ENST00000676847.1:c.2947+1G>A | ENSP00000503336.1:n.2947+1G>A | |
| ENST00000676858.1:c.*929+1G>A | ENSP00000502925.1:n.*929+1G>A | |
| ENST00000676882.1:c.2854+1G>A | ENSP00000504342.1:n.2854+1G>A | |
| ENST00000676968.1:c.840+1G>A | ||
| ENST00000677009.1:c.2953+1G>A | ENSP00000503297.1:n.2953+1G>A | |
| ENST00000677052.1:n.2466+1G>A | ||
| ENST00000677131.1:c.840+1G>A | ||
| ENST00000677256.1:c.*2687+1G>A | ENSP00000504102.1:n.*2687+1G>A | |
| ENST00000677430.1:c.*560+1G>A | ENSP00000504177.1:n.*560+1G>A | |
| ENST00000677473.1:c.*984+1G>A | ENSP00000503534.1:n.*984+1G>A | |
| ENST00000677538.1:n.350+1G>A | ||
| ENST00000677592.1:c.2935+1G>A | ENSP00000504516.1:n.2935+1G>A | |
| ENST00000677619.1:c.2314+1G>A | ENSP00000504522.1:n.2314+1G>A | |
| ENST00000677697.1:n.931+1G>A | ||
| ENST00000677845.1:c.*1339+1G>A | ENSP00000503524.1:n.*1339+1G>A | |
| ENST00000677855.1:c.2276+1G>A | ENSP00000504757.1:n.2276+1G>A | |
| ENST00000677964.1:c.965+1G>A | ||
| ENST00000678017.1:c.1819+1G>A | ENSP00000504394.1:n.1819+1G>A | |
| ENST00000678318.1:c.2503+1G>A | ENSP00000503690.1:n.2503+1G>A | |
| ENST00000678542.1:c.3076+1G>A | ENSP00000503878.1:n.3076+1G>A | |
| ENST00000678616.1:c.2968+1G>A MANE Select | ENSP00000504733.1:n.2968+1G>A | |
| ENST00000678635.1:n.1463+1G>A | ||
| ENST00000678645.1:c.2845+1G>A | ENSP00000504031.1:n.2845+1G>A | |
| ENST00000678723.1:c.840+1G>A | ||
| ENST00000678747.1:c.2395+1G>A | ENSP00000503390.1:n.2395+1G>A | |
| ENST00000678895.1:c.840+1G>A | ||
| ENST00000679060.1:n.93+1G>A | ||
| ENST00000679112.1:c.*2867+1G>A | ENSP00000503739.1:n.*2867+1G>A | |
| ENST00000679226.1:c.2692+1G>A | ENSP00000503601.1:n.2692+1G>A | |
| ENST00000679274.1:n.1892+1G>A | ||
| ENST00000679295.1:n.1939+1G>A | ||
| ENST00000262210.9:c.2953+1G>A | ENSP00000262210.5:n.2953+1G>A | |
| ENST00000519668.1:c.1918+1G>A | ENSP00000430092.1:n.1918+1G>A | |
| ENST00000521168.5:n.958+1G>A | ||
| ENST00000521324.1:n.44+1G>A | ||
| NM_001291339.1:c.1918+1G>A | NP_001278268.1:n.1918+1G>A | |
| NM_024790.6:c.2953+1G>A | NP_079066.5:n.2953+1G>A | |
| XM_005251305.3:c.3196+1G>A | XP_005251362.2:n.3196+1G>A | |
| XM_006716474.2:c.3043+1G>A | XP_006716537.2:n.3043+1G>A | |
| XM_006716477.2:c.2665+1G>A | XP_006716540.2:n.2665+1G>A | |
| XM_011517598.1:c.3238+1G>A | XP_011515900.1:n.3238+1G>A | |
| XM_011517599.1:c.3214+1G>A | XP_011515901.1:n.3214+1G>A | |
| XM_011517600.1:c.3172+1G>A | XP_011515902.1:n.3172+1G>A | |
| XM_011517601.1:c.3133+1G>A | XP_011515903.1:n.3133+1G>A | |
| XM_011517602.1:c.3091+1G>A | XP_011515904.1:n.3091+1G>A | |
| XM_011517603.1:c.2992+1G>A | XP_011515905.1:n.2992+1G>A | |
| XM_011517604.1:c.2992+1G>A | XP_011515906.1:n.2992+1G>A | |
| XM_011517605.1:c.2992+1G>A | XP_011515907.1:n.2992+1G>A | |
| XM_011517606.1:c.2968+1G>A | XP_011515908.1:n.2968+1G>A | |
| XM_011517607.1:c.2968+1G>A | XP_011515909.1:n.2968+1G>A | |
| XM_011517608.1:c.2887+1G>A | XP_011515910.1:n.2887+1G>A | |
| XM_011517609.1:c.2113+1G>A | XP_011515911.1:n.2113+1G>A | |
| XM_011517610.1:c.1633+1G>A | XP_011515912.1:n.1633+1G>A | |
| XM_011517611.1:c.1273+1G>A | XP_011515913.1:n.1273+1G>A | |
| NM_001363131.1:c.2887+1G>A | NP_001350060.1:n.2887+1G>A | |
| NM_001363132.1:c.2773+1G>A | NP_001350061.1:n.2773+1G>A | |
| NM_001363133.1:c.2692+1G>A | NP_001350062.1:n.2692+1G>A | |
| NM_001364869.1:c.3034+1G>A | NP_001351798.1:n.3034+1G>A | |
| NM_001364870.1:c.2854+1G>A | NP_001351799.1:n.2854+1G>A | |
| XM_005251305.4:c.3196+1G>A | XP_005251362.2:n.3196+1G>A | |
| XM_006716474.3:c.3043+1G>A | XP_006716537.2:n.3043+1G>A | |
| XM_006716477.3:c.2665+1G>A | XP_006716540.2:n.2665+1G>A | |
| XM_011517598.2:c.3238+1G>A | XP_011515900.1:n.3238+1G>A | |
| XM_011517599.2:c.3214+1G>A | XP_011515901.1:n.3214+1G>A | |
| XM_011517600.2:c.3172+1G>A | XP_011515902.1:n.3172+1G>A | |
| XM_011517601.2:c.3133+1G>A | XP_011515903.1:n.3133+1G>A | |
| XM_011517602.2:c.3091+1G>A | XP_011515904.1:n.3091+1G>A | |
| XM_011517603.2:c.2992+1G>A | XP_011515905.1:n.2992+1G>A | |
| XM_011517607.2:c.2968+1G>A | XP_011515909.1:n.2968+1G>A | |
| XM_011517609.2:c.2113+1G>A | XP_011515911.1:n.2113+1G>A | |
| XM_011517611.3:c.1273+1G>A | XP_011515913.1:n.1273+1G>A | |
| XM_017013847.2:c.3097+1G>A | XP_016869336.1:n.3097+1G>A | |
| XM_017013848.2:c.3073+1G>A | XP_016869337.1:n.3073+1G>A | |
| XM_017013849.2:c.3034+1G>A | XP_016869338.1:n.3034+1G>A | |
| XM_017013850.2:c.2992+1G>A | XP_016869339.1:n.2992+1G>A | |
| XM_017013851.2:c.2845+1G>A | XP_016869340.1:n.2845+1G>A | |
| XM_017013852.2:c.2839+1G>A | XP_016869341.1:n.2839+1G>A | |
| XM_017013854.2:c.2641+1G>A | XP_016869343.1:n.2641+1G>A | |
| XM_017013855.2:c.2407+1G>A | XP_016869344.1:n.2407+1G>A | |
| XM_017013856.2:c.2314+1G>A | XP_016869345.1:n.2314+1G>A | |
| XM_017013858.2:c.1480+1G>A | XP_016869347.1:n.1480+1G>A | |
| XM_024447278.1:c.2968+1G>A | XP_024303046.1:n.2968+1G>A | |
| XM_024447279.1:c.2887+1G>A | XP_024303047.1:n.2887+1G>A | |
| XM_024447281.1:c.2692+1G>A | XP_024303049.1:n.2692+1G>A | |
| XM_024447282.1:c.2395+1G>A | XP_024303050.1:n.2395+1G>A | |
| XM_024447283.1:c.2071+1G>A | XP_024303051.1:n.2071+1G>A | |
| XM_024447284.1:c.1633+1G>A | XP_024303052.1:n.1633+1G>A | |
| NM_001363131.2:c.2887+1G>A | NP_001350060.1:n.2887+1G>A | |
| NM_001363132.2:c.2773+1G>A | NP_001350061.1:n.2773+1G>A | |
| NM_001363133.2:c.2692+1G>A | NP_001350062.1:n.2692+1G>A | |
| NM_001291339.2:c.1918+1G>A | NP_001278268.1:n.1918+1G>A | |
| NM_001382391.1:c.2968+1G>A MANE Select | NP_001369320.1:n.2968+1G>A |