Linked Data
ClinVar Variation Id:
7513
ClinVar RCV Id:
RCV000007943
dbSNP Id:
rs121912639
gnomAD v2:
11-67800632-C-T
gnomAD v4:
11-68033165-C-T
COSMIC:
COSM5523244
PubMed:
PMID:15159508
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68033165C>T , CM000673.2:g.68033165C>T | GRCh38 |
| NC_000011.9:g.67800632C>T , CM000673.1:g.67800632C>T | GRCh37 |
| NC_000011.8:g.67557208C>T | NCBI36 |
| NG_017040.1:g.7549C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313468.10:c.254C>T MANE Select | ENSP00000315774.5:p.Pro85Leu | |
| ENST00000313468.9:c.254C>T | ENSP00000315774.5:p.Pro85Leu | |
| ENST00000432321.6:n.371C>T | ||
| ENST00000453471.6:c.254C>T | ENSP00000403972.2:p.Pro85Leu | |
| ENST00000524810.5:c.25C>T | ||
| ENST00000525419.5:c.200C>T | ENSP00000433521.1:p.Pro67Leu | |
| ENST00000525628.1:c.254C>T | ENSP00000432968.1:p.Pro85Leu | |
| ENST00000526339.5:c.254C>T | ENSP00000436287.1:p.Pro85Leu | |
| ENST00000526446.5:c.*309C>T | ENSP00000433645.1:n.*309C>T | |
| ENST00000528492.1:c.-67+2432C>T | ENSP00000432848.1:n.-67+2432C>T | |
| ENST00000529645.1:c.432C>T | ENSP00000431293.1:n.432C>T | |
| ENST00000531228.1:c.*96C>T | ENSP00000433054.1:n.*96C>T | |
| ENST00000532399.1:n.959C>T | ||
| NM_002496.3:c.254C>T | NP_002487.1:p.Pro85Leu | |
| XM_005274013.1:c.254C>T | XP_005274070.1:p.Pro85Leu | |
| XM_005274014.1:c.254C>T | XP_005274071.1:p.Pro85Leu | |
| XM_005274015.1:c.134C>T | XP_005274072.1:p.Pro45Leu | |
| XM_011545053.1:c.254C>T | XP_011543355.1:p.Pro85Leu | |
| NM_002496.4:c.254C>T MANE Select | NP_002487.1:p.Pro85Leu |