Linked Data
ClinVar Variation Id:
161725
ClinVar RCV Id:
RCV000149261
dbSNP Id:
rs193920799
ExAC:
6:136494965 C / T
gnomAD v2:
6-136494965-C-T
gnomAD v3:
6-136173827-C-T
gnomAD v4:
6-136173827-C-T
COSMIC:
COSM1179306
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136173827C>T , CM000668.2:g.136173827C>T | GRCh38 |
| NC_000006.11:g.136494965C>T , CM000668.1:g.136494965C>T | GRCh37 |
| NC_000006.10:g.136536658C>T | NCBI36 |
| NG_011994.1:g.327132C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308191.11:c.742C>T MANE Select | ENSP00000310661.6:p.Arg248Ter | |
| ENST00000308191.10:c.742C>T | ENSP00000310661.6:p.Arg248Ter | |
| ENST00000615259.4:c.898C>T | ENSP00000482117.1:p.Arg300Ter | |
| NM_018945.3:c.742C>T | NP_061818.1:p.Arg248Ter | |
| XM_005266931.2:c.898C>T | XP_005266988.1:p.Arg300Ter | |
| XM_011535755.1:c.859C>T | XP_011534057.1:p.Arg287Ter | |
| NM_018945.4:c.742C>T MANE Select | NP_061818.1:p.Arg248Ter |