Linked Data
dbSNP Id:
rs745781765
ExAC:
12:46246569 G / T
gnomAD v4:
12-45852786-G-T
COSMIC:
COSM4593385
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.45852786G>T , CM000674.2:g.45852786G>T | GRCh38 |
| NC_000012.11:g.46246569G>T , CM000674.1:g.46246569G>T | GRCh37 |
| NC_000012.10:g.44532836G>T | NCBI36 |
| NG_052800.1:g.128122G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422737.7:c.4663G>T | ENSP00000415650.3:p.Ala1555Ser | |
| ENST00000457135.2:c.872G>T | ||
| ENST00000334344.11:c.4663G>T MANE Select | ENSP00000335044.6:p.Ala1555Ser | |
| ENST00000422737.6:c.4584G>T | ||
| ENST00000334344.10:c.4663G>T | ENSP00000335044.6:p.Ala1555Ser | |
| ENST00000422737.5:c.4216G>T | ENSP00000415650.1:p.Ala1406Ser | |
| ENST00000444670.5:c.3493G>T | ENSP00000397307.1:p.Ala1165Ser | |
| ENST00000457135.1:c.487G>T | ENSP00000388357.1:p.Ala163Ser | |
| ENST00000479608.5:n.3954G>T | ||
| NM_152641.2:c.4663G>T | NP_689854.2:p.Ala1555Ser | |
| XM_006719272.2:c.4663G>T | XP_006719335.1:p.Ala1555Ser | |
| XM_011538025.1:c.3031G>T | XP_011536327.1:p.Ala1011Ser | |
| XR_944505.1:n.4811G>T | ||
| NM_001347839.1:c.4663G>T | NP_001334768.1:p.Ala1555Ser | |
| NM_152641.3:c.4663G>T | NP_689854.2:p.Ala1555Ser | |
| XM_006719272.4:c.4663G>T | XP_006719335.1:p.Ala1555Ser | |
| XR_944505.3:n.4794G>T | ||
| NM_152641.4:c.4663G>T MANE Select | NP_689854.2:p.Ala1555Ser | |
| NM_001347839.2:c.4663G>T | NP_001334768.1:p.Ala1555Ser |