Linked Data
dbSNP Id:
rs760373610
ExAC:
3:119133187 C / T
gnomAD v2:
3-119133187-C-T
gnomAD v4:
3-119414340-C-T
COSMIC:
COSM4850467
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414340C>T , CM000665.2:g.119414340C>T | GRCh38 |
| NC_000003.11:g.119133187C>T , CM000665.1:g.119133187C>T | GRCh37 |
| NC_000003.10:g.120615877C>T | NCBI36 |
| NG_007665.2:g.124968C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2411C>T MANE Select | ENSP00000264245.4:p.Pro804Leu | |
| ENST00000264245.8:c.2411C>T | ENSP00000264245.4:p.Pro804Leu | |
| NM_020754.3:c.2411C>T | NP_065805.2:p.Pro804Leu | |
| XM_005247671.3:c.2318C>T | XP_005247728.1:p.Pro773Leu | |
| XM_006713714.2:c.2351C>T | XP_006713777.1:p.Pro784Leu | |
| XM_006713714.3:c.2351C>T | XP_006713777.1:p.Pro784Leu | |
| XM_017006955.1:c.1919C>T | XP_016862444.1:p.Pro640Leu | |
| NM_020754.4:c.2411C>T MANE Select | NP_065805.2:p.Pro804Leu |