Linked Data
ClinVar Variation Id:
136812
dbSNP Id:
rs78543192
ExAC:
7:146829390 C / T
gnomAD v2:
7-146829390-C-T
gnomAD v3:
7-147132298-C-T
gnomAD v4:
7-147132298-C-T
COSMIC:
COSM1329992
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147132298C>T , CM000669.2:g.147132298C>T | GRCh38 |
| NC_000007.13:g.146829390C>T , CM000669.1:g.146829390C>T | GRCh37 |
| NC_000007.12:g.146460323C>T | NCBI36 |
| NG_007092.2:g.1020938C>T | |
| NG_007092.3:g.1021298C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1137C>T MANE Select | ENSP00000354778.3:p.Asn379= | |
| ENST00000636561.1:n.1040C>T | ||
| ENST00000636870.1:n.999C>T | ||
| ENST00000637150.1:n.1066C>T | ||
| ENST00000637694.1:n.1040C>T | ||
| ENST00000637825.1:n.620C>T | ||
| ENST00000638117.1:n.1040C>T | ||
| ENST00000361727.7:c.1137C>T | ENSP00000354778.3:p.Asn379= | |
| NM_014141.5:c.1137C>T | NP_054860.1:p.Asn379= | |
| XM_017011950.2:c.1137C>T | XP_016867439.1:p.Asn379= | |
| NM_014141.6:c.1137C>T MANE Select | NP_054860.1:p.Asn379= |