Linked Data
dbSNP Id:
rs1944345816
gnomAD v4:
12-53309171-A-G
MyVariant Identifiers:
chr12:g.53702955A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53309171A>G , CM000674.2:g.53309171A>G | GRCh38 |
| NC_000012.11:g.53702955A>G , CM000674.1:g.53702955A>G | GRCh37 |
| NC_000012.10:g.51989222A>G | NCBI36 |
| NG_016775.1:g.17458T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.921T>C MANE Select | ENSP00000209873.4:p.Pro307= | |
| ENST00000546393.7:n.1766T>C | ||
| ENST00000546562.6:n.1985T>C | ||
| ENST00000547238.6:n.1557T>C | ||
| ENST00000547520.6:n.915T>C | ||
| ENST00000547757.2:c.-31T>C | ENSP00000448020.2:n.-31T>C | |
| ENST00000548880.2:n.1371T>C | ||
| ENST00000548931.6:c.441T>C | ENSP00000457518.1:p.Pro147= | |
| ENST00000549450.6:n.855T>C | ||
| ENST00000552161.6:n.1877T>C | ||
| ENST00000672797.1:n.1374T>C | ||
| ENST00000672900.1:n.1719T>C | ||
| ENST00000209873.8:c.921T>C | ENSP00000209873.4:p.Pro307= | |
| ENST00000394384.7:c.822T>C | ENSP00000377908.3:p.Pro274= | |
| ENST00000546393.6:n.818T>C | ||
| ENST00000546572.1:n.373T>C | ||
| ENST00000547520.5:n.625T>C | ||
| ENST00000547757.1:c.822T>C | ENSP00000448020.1:p.Pro274= | |
| ENST00000547761.6:n.813T>C | ||
| ENST00000548931.5:c.441T>C | ENSP00000457518.1:p.Pro147= | |
| ENST00000550033.5:n.176T>C | ||
| ENST00000550286.5:c.549T>C | ENSP00000446885.1:p.Pro183= | |
| ENST00000552876.5:n.1264T>C | ||
| NM_001173466.1:c.822T>C | NP_001166937.1:p.Pro274= | |
| NM_015665.5:c.921T>C | NP_056480.1:p.Pro307= | |
| XM_006719617.2:c.936T>C | XP_006719680.1:p.Pro312= | |
| XM_006719619.2:c.936T>C | XP_006719682.1:p.Pro312= | |
| XM_011538777.1:c.936T>C | XP_011537079.1:p.Pro312= | |
| XM_011538778.1:c.921T>C | XP_011537080.1:p.Pro307= | |
| XM_011538779.1:c.837T>C | XP_011537081.1:p.Pro279= | |
| XM_011538780.1:c.822T>C | XP_011537082.1:p.Pro274= | |
| XM_011538781.1:c.270T>C | XP_011537083.1:p.Pro90= | |
| XM_011538778.2:c.921T>C | XP_011537080.1:p.Pro307= | |
| XM_011538780.2:c.822T>C | XP_011537082.1:p.Pro274= | |
| XR_001748875.2:n.942T>C | ||
| NM_015665.6:c.921T>C MANE Select | NP_056480.1:p.Pro307= | |
| NM_001173466.2:c.822T>C | NP_001166937.1:p.Pro274= |