Linked Data
dbSNP Id:
rs1271257357
gnomAD v2:
6-32188392-C-T
gnomAD v4:
6-32220615-C-T
COSMIC:
COSM4651024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32220615C>T , CM000668.2:g.32220615C>T | GRCh38 |
| NC_000006.11:g.32188392C>T , CM000668.1:g.32188392C>T | GRCh37 |
| NC_000006.10:g.32296370C>T | NCBI36 |
| NG_028190.1:g.8453G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375023.3:c.949G>A MANE Select | ENSP00000364163.3:p.Glu317Lys | |
| ENST00000473562.1:n.1078G>A | ||
| NM_004557.3:c.949G>A | NP_004548.3:p.Glu317Lys | |
| NR_134949.1:n.1088G>A | ||
| NR_134950.1:n.1088G>A | ||
| NM_004557.4:c.949G>A MANE Select | NP_004548.3:p.Glu317Lys | |
| NR_134949.2:n.1088G>A | ||
| NR_134950.2:n.1088G>A |