Linked Data
dbSNP Id:
rs761265703
ExAC:
6:6224953 G / A
gnomAD v2:
6-6224953-G-A
gnomAD v4:
6-6224720-G-A
COSMIC:
COSM3875053
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6224720G>A , CM000668.2:g.6224720G>A | GRCh38 |
| NC_000006.11:g.6224953G>A , CM000668.1:g.6224953G>A | GRCh37 |
| NC_000006.10:g.6169952G>A | NCBI36 |
| NG_008107.1:g.100972C>T , LRG_549:g.100972C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.939C>T MANE Select | ENSP00000264870.3:p.Gly313= | |
| ENST00000264870.7:c.939C>T | ENSP00000264870.3:p.Gly313= | |
| ENST00000445223.1:c.89C>T | ||
| NM_000129.3:c.939C>T , LRG_549t1:c.939C>T | NP_000120.2:p.Gly313= | |
| XM_006715010.2:c.939C>T | XP_006715073.1:p.Gly313= | |
| XM_011514342.1:c.1101C>T | XP_011512644.1:p.Gly367= | |
| NM_000129.4:c.939C>T MANE Select | NP_000120.2:p.Gly313= |