Linked Data
ClinVar Variation Id:
1097135
dbSNP Id:
rs776512983
ExAC:
6:51524622 A / C
gnomAD v2:
6-51524622-A-C
gnomAD v4:
6-51659824-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659824A>C , CM000668.2:g.51659824A>C | GRCh38 |
| NC_000006.11:g.51524622A>C , CM000668.1:g.51524622A>C | GRCh37 |
| NC_000006.10:g.51632581A>C | NCBI36 |
| NG_008753.1:g.432802T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10302T>G MANE Select | ENSP00000360158.3:p.Thr3434= | |
| ENST00000371117.7:c.10302T>G | ENSP00000360158.3:p.Thr3434= | |
| NM_138694.3:c.10302T>G | NP_619639.3:p.Thr3434= | |
| XM_011514679.1:c.10302T>G | XP_011512981.1:p.Thr3434= | |
| XM_011514680.1:c.10302T>G | XP_011512982.1:p.Thr3434= | |
| XM_011514681.1:c.10173T>G | XP_011512983.1:p.Thr3391= | |
| XM_011514682.1:c.10164T>G | XP_011512984.1:p.Thr3388= | |
| XM_011514683.1:c.9660T>G | XP_011512985.1:p.Thr3220= | |
| XM_011514684.1:c.9591T>G | XP_011512986.1:p.Thr3197= | |
| XM_011514687.1:c.10157-10604T>G | XP_011512989.1:n.10157-10604T>G | |
| XM_011514690.1:c.4377T>G | XP_011512992.1:p.Thr1459= | |
| XM_011514691.1:c.4377T>G | XP_011512993.1:p.Thr1459= | |
| XR_926870.1:n.535+7451A>C | ||
| XR_926871.1:n.403+7451A>C | ||
| XR_926872.1:n.535+7451A>C | ||
| XM_011514680.3:c.10302T>G | XP_011512982.1:p.Thr3434= | |
| XM_011514682.3:c.10164T>G | XP_011512984.1:p.Thr3388= | |
| XM_011514683.3:c.9660T>G | XP_011512985.1:p.Thr3220= | |
| XM_011514684.3:c.9591T>G | XP_011512986.1:p.Thr3197= | |
| XM_011514690.3:c.4377T>G | XP_011512992.1:p.Thr1459= | |
| XM_011514691.3:c.4377T>G | XP_011512993.1:p.Thr1459= | |
| XM_017010944.2:c.10302T>G | XP_016866433.1:p.Thr3434= | |
| XM_017010945.2:c.10227T>G | XP_016866434.1:p.Thr3409= | |
| XM_017010946.2:c.10107T>G | XP_016866435.1:p.Thr3369= | |
| XM_017010947.2:c.10038T>G | XP_016866436.1:p.Thr3346= | |
| XM_017010948.2:c.9591T>G | XP_016866437.1:p.Thr3197= | |
| XM_017010949.2:c.8442T>G | XP_016866438.1:p.Thr2814= | |
| XR_001743469.1:n.10578T>G | ||
| XR_001744157.1:n.3145+7451A>C | ||
| XR_926870.2:n.3145+7451A>C | ||
| XR_926871.2:n.3013+7451A>C | ||
| XR_926872.2:n.3145+7451A>C | ||
| NM_138694.4:c.10302T>G MANE Select | NP_619639.3:p.Thr3434= |