Linked Data
dbSNP Id:
rs777872854
ExAC:
15:58302914 G / A
gnomAD v2:
15-58302914-G-A
gnomAD v3:
15-58010716-G-A
gnomAD v4:
15-58010716-G-A
COSMIC:
COSM963322
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58010716G>A , CM000677.2:g.58010716G>A | GRCh38 |
| NC_000015.9:g.58302914G>A , CM000677.1:g.58302914G>A | GRCh37 |
| NC_000015.8:g.56090206G>A | NCBI36 |
| NG_012259.1:g.59993C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249750.9:c.426C>T MANE Select | ENSP00000249750.4:p.Gly142= | |
| ENST00000249750.8:c.426C>T | ENSP00000249750.4:p.Gly142= | |
| ENST00000347587.7:c.426C>T | ENSP00000309623.3:p.Gly142= | |
| ENST00000430119.6:c.*400C>T | ENSP00000416754.2:n.*400C>T | |
| ENST00000537372.5:c.363C>T | ENSP00000438296.1:p.Gly121= | |
| ENST00000558231.5:c.339C>T | ENSP00000453600.1:p.Gly113= | |
| ENST00000559266.5:n.318+3142C>T | ||
| ENST00000559517.5:c.138C>T | ENSP00000453408.1:p.Gly46= | |
| ENST00000561070.5:c.138C>T | ENSP00000452850.1:p.Gly46= | |
| NM_001206897.1:c.363C>T | NP_001193826.1:p.Gly121= | |
| NM_003888.3:c.426C>T | NP_003879.2:p.Gly142= | |
| NM_170696.2:c.426C>T | NP_733797.1:p.Gly142= | |
| NM_170697.2:c.138C>T | NP_733798.1:p.Gly46= | |
| XM_024450095.1:c.426C>T | XP_024305863.1:p.Gly142= | |
| NM_003888.4:c.426C>T MANE Select | NP_003879.2:p.Gly142= | |
| NM_170696.3:c.426C>T | NP_733797.1:p.Gly142= | |
| NM_170697.3:c.138C>T | NP_733798.1:p.Gly46= | |
| NM_001206897.2:c.363C>T | NP_001193826.1:p.Gly121= |