Linked Data
dbSNP Id:
rs747588944
ExAC:
10:96708999 C / T
gnomAD v2:
10-96708999-C-T
gnomAD v4:
10-94949242-C-T
COSMIC:
COSM3442004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94949242C>T , CM000672.2:g.94949242C>T | GRCh38 |
| NC_000010.10:g.96708999C>T , CM000672.1:g.96708999C>T | GRCh37 |
| NC_000010.9:g.96698989C>T | NCBI36 |
| NG_008385.1:g.15585C>T | |
| NG_008385.2:g.16085C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.777C>T MANE Select | ENSP00000260682.6:p.Asn259= | |
| ENST00000643112.1:c.777C>T | ENSP00000496202.1:p.Asn259= | |
| ENST00000260682.6:c.777C>T | ENSP00000260682.6:p.Asn259= | |
| ENST00000473496.1:n.548C>T | ||
| NM_000771.3:c.777C>T | NP_000762.2:p.Asn259= | |
| NM_000771.4:c.777C>T MANE Select | NP_000762.2:p.Asn259= |