Linked Data
dbSNP Id:
rs775217758
ExAC:
12:53701298 G / A
gnomAD v2:
12-53701298-G-A
gnomAD v3:
12-53307514-G-A
gnomAD v4:
12-53307514-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307514G>A , CM000674.2:g.53307514G>A | GRCh38 |
| NC_000012.11:g.53701298G>A , CM000674.1:g.53701298G>A | GRCh37 |
| NC_000012.10:g.51987565G>A | NCBI36 |
| NG_016775.1:g.19115C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1616C>T MANE Select | ENSP00000209873.4:p.Pro539Leu | |
| ENST00000546562.6:n.2680C>T | ||
| ENST00000547757.2:c.*534C>T | ENSP00000448020.2:n.*534C>T | |
| ENST00000548931.6:c.1051C>T | ENSP00000457518.1:p.Pro351Ser | |
| ENST00000549450.6:n.1550C>T | ||
| ENST00000209873.8:c.1616C>T | ENSP00000209873.4:p.Pro539Leu | |
| ENST00000394384.7:c.1517C>T | ENSP00000377908.3:p.Pro506Leu | |
| ENST00000548931.5:c.1051C>T | ENSP00000457518.1:p.Pro351Ser | |
| ENST00000550286.5:c.1244C>T | ENSP00000446885.1:p.Pro415Leu | |
| ENST00000552876.5:n.1959C>T | ||
| NM_001173466.1:c.1517C>T | NP_001166937.1:p.Pro506Leu | |
| NM_015665.5:c.1616C>T | NP_056480.1:p.Pro539Leu | |
| XM_006719617.2:c.1631C>T | XP_006719680.1:p.Pro544Leu | |
| XM_011538777.1:c.1673C>T | XP_011537079.1:p.Pro558Leu | |
| XM_011538778.1:c.1658C>T | XP_011537080.1:p.Pro553Leu | |
| XM_011538779.1:c.1574C>T | XP_011537081.1:p.Pro525Leu | |
| XM_011538780.1:c.1559C>T | XP_011537082.1:p.Pro520Leu | |
| XM_011538781.1:c.1007C>T | XP_011537083.1:p.Pro336Leu | |
| XM_011538778.2:c.1658C>T | XP_011537080.1:p.Pro553Leu | |
| XM_011538780.2:c.1559C>T | XP_011537082.1:p.Pro520Leu | |
| XR_001748875.2:n.1673C>T | ||
| NM_015665.6:c.1616C>T MANE Select | NP_056480.1:p.Pro539Leu | |
| NM_001173466.2:c.1517C>T | NP_001166937.1:p.Pro506Leu |