Linked Data
dbSNP Id:
rs774507209
ExAC:
8:37623142 C / T
gnomAD v2:
8-37623142-C-T
gnomAD v3:
8-37765624-C-T
gnomAD v4:
8-37765624-C-T
COSMIC:
COSM3382238
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37765624C>T , CM000670.2:g.37765624C>T | GRCh38 |
| NC_000008.10:g.37623142C>T , CM000670.1:g.37623142C>T | GRCh37 |
| NC_000008.9:g.37742300C>T | NCBI36 |
| NG_053030.1:g.8872C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328195.8:c.198C>T MANE Select | ENSP00000333551.3:p.Gly66= | |
| ENST00000328195.7:c.198C>T | ENSP00000333551.3:p.Gly66= | |
| ENST00000518036.5:c.198C>T | ENSP00000428005.1:p.Gly66= | |
| ENST00000520073.5:n.263C>T | ||
| ENST00000523187.5:c.42C>T | ENSP00000427886.1:p.Gly14= | |
| ENST00000523358.5:c.198C>T | ENSP00000427778.1:p.Gly66= | |
| ENST00000523994.1:n.203C>T | ||
| NM_007198.3:c.198C>T | NP_009129.1:p.Gly66= | |
| NM_001349346.1:c.198C>T | NP_001336275.1:p.Gly66= | |
| NM_001349347.1:c.198C>T | NP_001336276.1:p.Gly66= | |
| NM_001349348.1:c.42C>T | NP_001336277.1:p.Gly14= | |
| NM_001349349.1:c.303C>T | NP_001336278.1:p.Gly101= | |
| NM_007198.4:c.198C>T MANE Select | NP_009129.1:p.Gly66= | |
| NM_001349346.2:c.198C>T | NP_001336275.1:p.Gly66= | |
| NM_001349347.2:c.198C>T | NP_001336276.1:p.Gly66= | |
| NM_001349348.2:c.42C>T | NP_001336277.1:p.Gly14= |