Linked Data
dbSNP Id:
rs768500784
ExAC:
12:53701410 G / A
gnomAD v2:
12-53701410-G-A
gnomAD v4:
12-53307626-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307626G>A , CM000674.2:g.53307626G>A | GRCh38 |
| NC_000012.11:g.53701410G>A , CM000674.1:g.53701410G>A | GRCh37 |
| NC_000012.10:g.51987677G>A | NCBI36 |
| NG_016775.1:g.19003C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1504C>T MANE Select | ENSP00000209873.4:p.Gln502Ter | |
| ENST00000546562.6:n.2568C>T | ||
| ENST00000547238.6:n.2140C>T | ||
| ENST00000547520.6:n.1620C>T | ||
| ENST00000547757.2:c.*422C>T | ENSP00000448020.2:n.*422C>T | |
| ENST00000548931.6:c.939C>T | ENSP00000457518.1:p.Pro313= | |
| ENST00000549450.6:n.1438C>T | ||
| ENST00000672797.1:n.1993C>T | ||
| ENST00000209873.8:c.1504C>T | ENSP00000209873.4:p.Gln502Ter | |
| ENST00000394384.7:c.1405C>T | ENSP00000377908.3:p.Gln469Ter | |
| ENST00000548931.5:c.939C>T | ENSP00000457518.1:p.Pro313= | |
| ENST00000550286.5:c.1132C>T | ENSP00000446885.1:p.Gln378Ter | |
| ENST00000552876.5:n.1847C>T | ||
| NM_001173466.1:c.1405C>T | NP_001166937.1:p.Gln469Ter | |
| NM_015665.5:c.1504C>T | NP_056480.1:p.Gln502Ter | |
| XM_006719617.2:c.1519C>T | XP_006719680.1:p.Gln507Ter | |
| XM_011538777.1:c.1561C>T | XP_011537079.1:p.Gln521Ter | |
| XM_011538778.1:c.1546C>T | XP_011537080.1:p.Gln516Ter | |
| XM_011538779.1:c.1462C>T | XP_011537081.1:p.Gln488Ter | |
| XM_011538780.1:c.1447C>T | XP_011537082.1:p.Gln483Ter | |
| XM_011538781.1:c.895C>T | XP_011537083.1:p.Gln299Ter | |
| XM_011538778.2:c.1546C>T | XP_011537080.1:p.Gln516Ter | |
| XM_011538780.2:c.1447C>T | XP_011537082.1:p.Gln483Ter | |
| XR_001748875.2:n.1561C>T | ||
| NM_015665.6:c.1504C>T MANE Select | NP_056480.1:p.Gln502Ter | |
| NM_001173466.2:c.1405C>T | NP_001166937.1:p.Gln469Ter |