Linked Data
ClinVar Variation Id:
751790
ClinVar RCV Id:
RCV003495209
dbSNP Id:
rs1012101360
gnomAD v2:
4-128859978-A-G
gnomAD v4:
4-127938823-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127938823A>G , CM000666.2:g.127938823A>G | GRCh38 |
| NC_000004.11:g.128859978A>G , CM000666.1:g.128859978A>G | GRCh37 |
| NC_000004.10:g.129079428A>G | NCBI36 |
| NG_008657.1:g.32162T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296468.8:c.714T>C | ENSP00000296468.3:p.Asp238= | |
| ENST00000505284.6:n.930T>C | ||
| ENST00000509826.2:c.698+1030T>C | ENSP00000421176.2:n.698+1030T>C | |
| ENST00000513559.6:c.432T>C | ENSP00000425000.2:p.Asp144= | |
| ENST00000515130.6:c.579T>C | ENSP00000493056.1:p.Asp193= | |
| ENST00000641025.1:c.714T>C | ENSP00000493346.1:p.Asp238= | |
| ENST00000641092.1:c.553+3222T>C | ENSP00000493392.1:n.553+3222T>C | |
| ENST00000641133.1:c.*28T>C | ENSP00000493192.1:n.*28T>C | |
| ENST00000641134.1:c.434T>C | ENSP00000492925.1:p.Met145Thr | |
| ENST00000641147.1:c.304+4929T>C | ENSP00000493133.1:n.304+4929T>C | |
| ENST00000641178.1:c.579T>C | ENSP00000492989.1:p.Asp193= | |
| ENST00000641186.1:c.600T>C | ENSP00000493347.1:p.Asp200= | |
| ENST00000641228.1:c.553+3222T>C | ENSP00000493194.1:n.553+3222T>C | |
| ENST00000641243.1:c.569T>C | ENSP00000493083.1:p.Met190Thr | |
| ENST00000641264.1:c.*511T>C | ENSP00000492908.1:n.*511T>C | |
| ENST00000641332.1:c.569T>C | ENSP00000493397.1:p.Met190Thr | |
| ENST00000641340.1:c.698+1030T>C | ENSP00000493191.1:n.698+1030T>C | |
| ENST00000641369.1:c.210T>C | ENSP00000493037.1:p.Asp70= | |
| ENST00000641393.1:c.304+4929T>C | ENSP00000493197.1:n.304+4929T>C | |
| ENST00000641397.1:c.439+4929T>C | ENSP00000493406.1:n.439+4929T>C | |
| ENST00000641434.1:c.714T>C | ENSP00000493279.1:p.Asp238= | |
| ENST00000641464.1:c.449+1030T>C | ENSP00000493438.1:n.449+1030T>C | |
| ENST00000641482.1:c.714T>C | ENSP00000493277.1:p.Asp238= | |
| ENST00000641503.1:c.600T>C | ENSP00000493304.1:p.Asp200= | |
| ENST00000641508.1:c.698+1030T>C | ENSP00000493209.1:n.698+1030T>C | |
| ENST00000641509.1:c.439+4929T>C | ENSP00000493459.1:n.439+4929T>C | |
| ENST00000641538.1:c.560T>C | ||
| ENST00000641590.1:c.600T>C | ENSP00000493132.1:p.Asp200= | |
| ENST00000641658.1:c.434T>C | ENSP00000492987.1:p.Met145Thr | |
| ENST00000641686.2:c.714T>C MANE Select | ENSP00000493218.2:p.Asp238= | |
| ENST00000641690.1:c.553+3222T>C | ENSP00000492966.1:n.553+3222T>C | |
| ENST00000641695.1:c.712T>C | ENSP00000493134.1:p.Ter238Arg | |
| ENST00000641742.1:c.569T>C | ENSP00000493315.1:p.Met190Thr | |
| ENST00000641743.1:c.714T>C | ENSP00000493130.1:p.Asp238= | |
| ENST00000641748.1:c.714T>C | ENSP00000493330.1:p.Asp238= | |
| ENST00000641753.1:c.541T>C | ||
| ENST00000641774.1:c.584+1030T>C | ENSP00000492960.1:n.584+1030T>C | |
| ENST00000641776.1:c.*266T>C | ENSP00000493261.1:n.*266T>C | |
| ENST00000641830.1:c.50T>C | ||
| ENST00000641843.1:c.320T>C | ENSP00000493174.1:p.Met107Thr | |
| ENST00000641869.1:c.19T>C | ||
| ENST00000641870.1:c.569T>C | ENSP00000493044.1:p.Met190Thr | |
| ENST00000641882.1:c.455T>C | ENSP00000493301.1:p.Met152Thr | |
| ENST00000641928.1:c.449+1030T>C | ENSP00000493418.1:n.449+1030T>C | |
| ENST00000641949.1:c.553+3222T>C | ENSP00000492891.1:n.553+3222T>C | |
| ENST00000642012.1:n.578T>C | ||
| ENST00000642034.1:c.600T>C | ENSP00000493285.1:p.Asp200= | |
| ENST00000642042.1:c.714T>C | ENSP00000493260.1:p.Asp238= | |
| ENST00000642078.1:c.434T>C | ENSP00000492885.1:p.Met145Thr | |
| ENST00000642121.1:n.91-8006T>C | ||
| ENST00000296468.7:c.714T>C | ENSP00000296468.3:p.Asp238= | |
| ENST00000505284.5:n.609T>C | ||
| ENST00000508441.1:n.581T>C | ||
| ENST00000509826.1:c.449+1030T>C | ENSP00000421176.1:n.449+1030T>C | |
| ENST00000513559.5:c.579T>C | ENSP00000425000.1:p.Asp193= | |
| ENST00000515130.5:n.1160T>C | ||
| NM_152778.2:c.714T>C | NP_689991.1:p.Asp238= | |
| XM_005262893.1:c.714T>C | XP_005262950.1:p.Asp238= | |
| XM_005262896.1:c.567T>C | XP_005262953.1:p.Asp189= | |
| XM_005262897.1:c.553+3222T>C | XP_005262954.1:n.553+3222T>C | |
| XM_005262898.2:c.714T>C | XP_005262955.1:p.Asp238= | |
| XM_005262900.2:c.569T>C | XP_005262957.1:p.Met190Thr | |
| XM_011531830.1:c.600T>C | XP_011530132.1:p.Asp200= | |
| XM_011531831.1:c.439+4929T>C | XP_011530133.1:n.439+4929T>C | |
| XM_011531832.1:c.600T>C | XP_011530134.1:p.Asp200= | |
| XR_938717.1:n.791T>C | ||
| NM_001363520.1:c.553+3222T>C | NP_001350449.1:n.553+3222T>C | |
| NM_001363521.1:c.439+4929T>C | NP_001350450.1:n.439+4929T>C | |
| XM_005262898.3:c.714T>C | XP_005262955.1:p.Asp238= | |
| XM_017007989.1:c.553+3222T>C | XP_016863478.1:n.553+3222T>C | |
| XM_024453981.1:c.579T>C | XP_024309749.1:p.Asp193= | |
| XM_024453982.1:c.465T>C | XP_024309750.1:p.Asp155= | |
| XM_024453983.1:c.304+4929T>C | XP_024309751.1:n.304+4929T>C | |
| XR_001741194.1:n.791T>C | ||
| XR_001741195.1:n.677T>C | ||
| XR_001741196.1:n.630+3222T>C | ||
| XR_001741197.1:n.646T>C | ||
| XR_001741198.2:n.646T>C | ||
| XR_001741199.1:n.646T>C | ||
| XR_938717.2:n.791T>C | ||
| NM_001363520.2:c.553+3222T>C | NP_001350449.1:n.553+3222T>C | |
| NM_001363521.2:c.439+4929T>C | NP_001350450.1:n.439+4929T>C | |
| NM_001371590.1:c.579T>C | NP_001358519.1:p.Asp193= | |
| NM_001371591.1:c.714T>C | NP_001358520.1:p.Asp238= | |
| NM_001371592.1:c.720T>C | NP_001358521.1:p.Asp240= | |
| NM_001371593.1:c.600T>C | NP_001358522.1:p.Asp200= | |
| NM_001371594.1:c.567T>C | NP_001358523.1:p.Asp189= | |
| NM_001371595.1:c.432T>C | NP_001358524.1:p.Asp144= | |
| NM_001371596.2:c.714T>C MANE Select | NP_001358525.1:p.Asp238= | |
| NM_152778.3:c.714T>C | NP_689991.1:p.Asp238= | |
| NM_152778.4:c.714T>C | NP_689991.1:p.Asp238= |