Linked Data
COSMIC:
COSM6269573
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814206G>T , CM000671.2:g.129814206G>T | GRCh38 |
| NC_000009.11:g.132576485G>T , CM000671.1:g.132576485G>T | GRCh37 |
| NC_000009.10:g.131616306G>T | NCBI36 |
| NG_008049.1:g.14957C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.765C>A MANE Select | ENSP00000345719.4:p.Ser255Arg | |
| ENST00000651202.1:c.*33C>A | ENSP00000498222.1:n.*33C>A | |
| ENST00000351698.4:c.765C>A | ENSP00000345719.4:p.Ser255Arg | |
| ENST00000474192.1:n.349C>A | ||
| NM_000113.2:c.765C>A | NP_000104.1:p.Ser255Arg | |
| XR_929731.1:n.1092C>A | ||
| XR_929731.3:n.960C>A | ||
| NM_000113.3:c.765C>A MANE Select | NP_000104.1:p.Ser255Arg |