Linked Data
dbSNP Id:
rs17170316
gnomAD v2:
7-33673265-G-T
gnomAD v3:
7-33633653-G-T
gnomAD v4:
7-33633653-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.33633653G>T , CM000669.2:g.33633653G>T | GRCh38 |
| NC_000007.13:g.33673265G>T , CM000669.1:g.33673265G>T | GRCh37 |
| NC_000007.12:g.33639790G>T | NCBI36 |
| NG_009306.2:g.509410G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000671952.1:c.2522-1524G>T | ENSP00000500239.1:n.2522-1524G>T | |
| ENST00000672453.1:n.2476+27921G>T | ||
| ENST00000672758.1:n.191-4111G>T | ||
| ENST00000673056.1:c.2633-1524G>T | ENSP00000499989.1:n.2633-1524G>T | |
| XM_011515264.1:c.2633-1524G>T | XP_011513566.1:n.2633-1524G>T | |
| XM_011515265.1:c.2633-1524G>T | XP_011513567.1:n.2633-1524G>T | |
| XM_011515266.1:c.2618-1524G>T | XP_011513568.1:n.2618-1524G>T | |
| XM_011515267.1:c.2528-1524G>T | XP_011513569.1:n.2528-1524G>T | |
| XM_011515268.1:c.2522-1524G>T | XP_011513570.1:n.2522-1524G>T | |
| XM_011515269.1:c.2360-1524G>T | XP_011513571.1:n.2360-1524G>T | |
| NM_001348041.3:c.2633-1524G>T | NP_001334970.1:n.2633-1524G>T | |
| NM_001362679.1:c.2522-1524G>T | NP_001349608.1:n.2522-1524G>T | |
| XM_011515265.2:c.2633-1524G>T | XP_011513567.1:n.2633-1524G>T | |
| XM_011515266.3:c.2618-1524G>T | XP_011513568.1:n.2618-1524G>T | |
| XM_011515267.3:c.2528-1524G>T | XP_011513569.1:n.2528-1524G>T | |
| XM_011515269.2:c.2360-1524G>T | XP_011513571.1:n.2360-1524G>T | |
| XM_017011990.1:c.2618-1524G>T | XP_016867479.1:n.2618-1524G>T | |
| NM_001348041.4:c.2633-1524G>T | NP_001334970.1:n.2633-1524G>T |