Linked Data
ClinVar Variation Id:
3234199
ClinVar RCV Id:
RCV004546052
dbSNP Id:
rs41281194
ExAC:
9:97844853 G / A
gnomAD v2:
9-97844853-G-A
gnomAD v3:
9-95082571-G-A
gnomAD v4:
9-95082571-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95082571G>A , CM000671.2:g.95082571G>A | GRCh38 |
| NC_000009.11:g.97844853G>A , CM000671.1:g.97844853G>A | GRCh37 |
| NC_000009.10:g.96884674G>A | NCBI36 |
| NG_027833.1:g.360903G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445181.6:n.413-4G>A | ||
| ENST00000478473.2:n.401-4G>A | ||
| ENST00000710812.1:n.410+1791G>A | ||
| ENST00000375315.8:c.2320-4G>A MANE Select | ENSP00000364464.2:n.2320-4G>A | |
| ENST00000375315.7:c.2320-4G>A | ENSP00000364464.2:n.2320-4G>A | |
| ENST00000297979.9:c.2023-4G>A | ENSP00000297979.5:n.2023-4G>A | |
| ENST00000375315.6:c.2320-4G>A | ENSP00000364464.2:n.2320-4G>A | |
| ENST00000428313.5:c.1666-4G>A | ENSP00000401854.1:n.1666-4G>A | |
| ENST00000445181.5:c.413-4G>A | ||
| ENST00000463372.5:n.404-4G>A | ||
| ENST00000468164.1:n.468-4G>A | ||
| ENST00000471978.5:n.428+1791G>A | ||
| ENST00000478473.1:c.401-4G>A | ||
| ENST00000479161.5:n.925-4G>A | ||
| ENST00000489562.5:n.493-4G>A | ||
| NM_001193329.1:c.2320-4G>A | NP_001180258.1:n.2320-4G>A | |
| NM_032823.5:c.2023-4G>A | NP_116212.3:n.2023-4G>A | |
| XM_005252284.1:c.2022+1791G>A | XP_005252341.1:n.2022+1791G>A | |
| XM_006717306.1:c.2320-4G>A | XP_006717369.1:n.2320-4G>A | |
| XM_011519119.1:c.2319+1791G>A | XP_011517421.1:n.2319+1791G>A | |
| XM_011519120.1:c.2202+1791G>A | XP_011517422.1:n.2202+1791G>A | |
| XM_011519121.1:c.2319+1791G>A | XP_011517423.1:n.2319+1791G>A | |
| XM_011519128.1:c.1428+1791G>A | XP_011517430.1:n.1428+1791G>A | |
| XM_011519132.1:c.1179+1791G>A | XP_011517434.1:n.1179+1791G>A | |
| XR_929852.1:n.2603-4G>A | ||
| XR_929853.1:n.2712-4G>A | ||
| XR_929854.1:n.2804-4G>A | ||
| XM_005252284.3:c.2022+1791G>A | XP_005252341.1:n.2022+1791G>A | |
| XM_006717306.2:c.2320-4G>A | XP_006717369.1:n.2320-4G>A | |
| XM_011519119.2:c.2319+1791G>A | XP_011517421.1:n.2319+1791G>A | |
| XM_011519120.3:c.2202+1791G>A | XP_011517422.1:n.2202+1791G>A | |
| XM_011519121.3:c.2319+1791G>A | XP_011517423.1:n.2319+1791G>A | |
| XM_017015229.1:c.2319+1791G>A | XP_016870718.1:n.2319+1791G>A | |
| XM_017015230.2:c.2320-4G>A | XP_016870719.1:n.2320-4G>A | |
| XM_017015231.2:c.2023-4G>A | XP_016870720.1:n.2023-4G>A | |
| XM_017015233.1:c.1449+1791G>A | XP_016870722.1:n.1449+1791G>A | |
| XM_017015234.2:c.1428+1791G>A | XP_016870723.1:n.1428+1791G>A | |
| XM_017015235.2:c.1429-4G>A | XP_016870724.1:n.1429-4G>A | |
| XM_017015236.2:c.1131+1791G>A | XP_016870725.1:n.1131+1791G>A | |
| XM_017015237.2:c.1132-4G>A | XP_016870726.1:n.1132-4G>A | |
| XR_001746402.2:n.2538-4G>A | ||
| XR_001746403.2:n.2197-4G>A | ||
| XR_001746404.2:n.2197-4G>A | ||
| XR_929852.2:n.2538-4G>A | ||
| XR_929853.2:n.2647-4G>A | ||
| XR_929854.2:n.2739-4G>A | ||
| NM_001193329.3:c.2320-4G>A MANE Select | NP_001180258.1:n.2320-4G>A | |
| NM_001386061.1:c.1029+1791G>A | NP_001372990.1:n.1029+1791G>A | |
| NM_001386062.2:c.1999-4G>A | NP_001372991.1:n.1999-4G>A | |
| NM_001386063.2:c.2182-4G>A | NP_001372992.1:n.2182-4G>A | |
| NM_001386066.1:c.2319+1791G>A | NP_001372995.1:n.2319+1791G>A | |
| NM_001386067.1:c.1797+1791G>A | NP_001372996.1:n.1797+1791G>A | |
| NM_001386068.1:c.2319+1791G>A | NP_001372997.1:n.2319+1791G>A | |
| NM_001386069.1:c.2022+1791G>A | NP_001372998.1:n.2022+1791G>A | |
| NM_001386070.1:c.2202+1791G>A | NP_001372999.1:n.2202+1791G>A | |
| NM_001386074.1:c.*358G>A | NP_001373003.1:n.*358G>A | |
| NM_001386075.1:c.2320-4G>A | NP_001373004.1:n.2320-4G>A | |
| NM_032823.6:c.2023-4G>A | NP_116212.3:n.2023-4G>A | |
| NR_169862.1:n.2400+1791G>A | ||
| NR_169863.2:n.2167-4G>A | ||
| NR_169864.1:n.2166+1791G>A | ||
| NR_169865.1:n.2297-4G>A | ||
| NR_169866.1:n.2000-4G>A | ||
| NR_169867.1:n.933-4G>A |