Linked Data
ClinVar Variation Id:
360112
dbSNP Id:
rs77064045
ExAC:
7:34125420 G / T
gnomAD v2:
7-34125420-G-T
gnomAD v3:
7-34085808-G-T
gnomAD v4:
7-34085808-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.34085808G>T , CM000669.2:g.34085808G>T | GRCh38 |
| NC_000007.13:g.34125420G>T , CM000669.1:g.34125420G>T | GRCh37 |
| NC_000007.12:g.34091945G>T | NCBI36 |
| NG_031933.1:g.185898G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476525.2:n.123G>T | ||
| ENST00000647656.1:c.*863G>T | ENSP00000497346.1:n.*863G>T | |
| ENST00000647703.1:n.856G>T | ||
| ENST00000648229.1:c.*357G>T | ENSP00000498201.1:n.*357G>T | |
| ENST00000648305.1:c.*290G>T | ENSP00000497365.1:n.*290G>T | |
| ENST00000648320.1:n.763G>T | ||
| ENST00000648392.1:c.1182G>T | ENSP00000497488.1:p.Pro394= | |
| ENST00000648445.1:c.1287G>T | ENSP00000498008.1:p.Pro429= | |
| ENST00000648618.1:c.*863G>T | ENSP00000496953.1:n.*863G>T | |
| ENST00000648848.1:c.1131G>T | ENSP00000497963.1:p.Pro377= | |
| ENST00000648856.1:c.1257G>T | ENSP00000496854.1:p.Pro419= | |
| ENST00000648982.1:c.1054G>T | ||
| ENST00000649002.1:c.*334G>T | ENSP00000496926.1:n.*334G>T | |
| ENST00000649232.1:c.1292G>T | ENSP00000497721.1:n.1292G>T | |
| ENST00000649409.2:c.1461G>T MANE Select | ENSP00000497748.1:p.Pro487= | |
| ENST00000649771.1:c.1129G>T | ENSP00000497314.1:p.Ala377Ser | |
| ENST00000649985.1:c.*816G>T | ENSP00000497578.1:n.*816G>T | |
| ENST00000650202.1:c.*863G>T | ENSP00000497972.1:n.*863G>T | |
| ENST00000650206.1:c.*592G>T | ENSP00000497637.1:n.*592G>T | |
| ENST00000650350.1:c.1204G>T | ENSP00000497933.1:n.1204G>T | |
| ENST00000650533.1:c.*155G>T | ENSP00000497081.1:n.*155G>T | |
| ENST00000650544.1:c.1356G>T | ENSP00000497982.1:p.Pro452= | |
| ENST00000297161.6:c.1461G>T | ENSP00000297161.2:p.Pro487= | |
| ENST00000476525.1:n.123G>T | ||
| NM_133468.4:c.1461G>T | NP_597725.1:p.Pro487= | |
| XM_005249633.1:c.1131G>T | XP_005249690.1:p.Pro377= | |
| XR_428072.1:n.1447G>T | ||
| NM_001365308.1:c.1461G>T MANE Select | NP_001352237.1:p.Pro487= | |
| NM_133468.5:c.1461G>T | NP_597725.1:p.Pro487= | |
| XM_005249633.3:c.1131G>T | XP_005249690.1:p.Pro377= | |
| XM_017011800.2:c.807G>T | XP_016867289.1:p.Pro269= | |
| XM_017011801.2:c.477G>T | XP_016867290.1:p.Pro159= |