Linked Data
dbSNP Id:
rs749063671
ExAC:
12:53701401 G / A
gnomAD v2:
12-53701401-G-A
gnomAD v4:
12-53307617-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307617G>A , CM000674.2:g.53307617G>A | GRCh38 |
| NC_000012.11:g.53701401G>A , CM000674.1:g.53701401G>A | GRCh37 |
| NC_000012.10:g.51987668G>A | NCBI36 |
| NG_016775.1:g.19012C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1513C>T MANE Select | ENSP00000209873.4:p.Pro505Ser | |
| ENST00000546562.6:n.2577C>T | ||
| ENST00000547238.6:n.2149C>T | ||
| ENST00000547520.6:n.1629C>T | ||
| ENST00000547757.2:c.*431C>T | ENSP00000448020.2:n.*431C>T | |
| ENST00000548931.6:c.948C>T | ENSP00000457518.1:p.Pro316= | |
| ENST00000549450.6:n.1447C>T | ||
| ENST00000672797.1:n.2002C>T | ||
| ENST00000209873.8:c.1513C>T | ENSP00000209873.4:p.Pro505Ser | |
| ENST00000394384.7:c.1414C>T | ENSP00000377908.3:p.Pro472Ser | |
| ENST00000548931.5:c.948C>T | ENSP00000457518.1:p.Pro316= | |
| ENST00000550286.5:c.1141C>T | ENSP00000446885.1:p.Pro381Ser | |
| ENST00000552876.5:n.1856C>T | ||
| NM_001173466.1:c.1414C>T | NP_001166937.1:p.Pro472Ser | |
| NM_015665.5:c.1513C>T | NP_056480.1:p.Pro505Ser | |
| XM_006719617.2:c.1528C>T | XP_006719680.1:p.Pro510Ser | |
| XM_011538777.1:c.1570C>T | XP_011537079.1:p.Pro524Ser | |
| XM_011538778.1:c.1555C>T | XP_011537080.1:p.Pro519Ser | |
| XM_011538779.1:c.1471C>T | XP_011537081.1:p.Pro491Ser | |
| XM_011538780.1:c.1456C>T | XP_011537082.1:p.Pro486Ser | |
| XM_011538781.1:c.904C>T | XP_011537083.1:p.Pro302Ser | |
| XM_011538778.2:c.1555C>T | XP_011537080.1:p.Pro519Ser | |
| XM_011538780.2:c.1456C>T | XP_011537082.1:p.Pro486Ser | |
| XR_001748875.2:n.1570C>T | ||
| NM_015665.6:c.1513C>T MANE Select | NP_056480.1:p.Pro505Ser | |
| NM_001173466.2:c.1414C>T | NP_001166937.1:p.Pro472Ser |