Linked Data
ClinVar Variation Id:
7511
dbSNP Id:
rs28939679
ExAC:
11:67800614 C / T
gnomAD v2:
11-67800614-C-T
gnomAD v4:
11-68033147-C-T
PubMed:
PMID:9837812
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68033147C>T , CM000673.2:g.68033147C>T | GRCh38 |
| NC_000011.9:g.67800614C>T , CM000673.1:g.67800614C>T | GRCh37 |
| NC_000011.8:g.67557190C>T | NCBI36 |
| NG_017040.1:g.7531C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.236C>T MANE Select | ENSP00000315774.5:p.Pro79Leu | |
| ENST00000313468.9:c.236C>T | ENSP00000315774.5:p.Pro79Leu | |
| ENST00000432321.6:n.353C>T | ||
| ENST00000453471.6:c.236C>T | ENSP00000403972.2:p.Pro79Leu | |
| ENST00000524810.5:c.7C>T | ||
| ENST00000525419.5:c.182C>T | ENSP00000433521.1:p.Pro61Leu | |
| ENST00000525628.1:c.236C>T | ENSP00000432968.1:p.Pro79Leu | |
| ENST00000526339.5:c.236C>T | ENSP00000436287.1:p.Pro79Leu | |
| ENST00000526446.5:c.*291C>T | ENSP00000433645.1:n.*291C>T | |
| ENST00000528492.1:c.-67+2414C>T | ENSP00000432848.1:n.-67+2414C>T | |
| ENST00000529645.1:c.414C>T | ENSP00000431293.1:n.414C>T | |
| ENST00000531228.1:c.*78C>T | ENSP00000433054.1:n.*78C>T | |
| ENST00000532399.1:n.941C>T | ||
| NM_002496.3:c.236C>T | NP_002487.1:p.Pro79Leu | |
| XM_005274013.1:c.236C>T | XP_005274070.1:p.Pro79Leu | |
| XM_005274014.1:c.236C>T | XP_005274071.1:p.Pro79Leu | |
| XM_005274015.1:c.116C>T | XP_005274072.1:p.Pro39Leu | |
| XM_011545053.1:c.236C>T | XP_011543355.1:p.Pro79Leu | |
| NM_002496.4:c.236C>T MANE Select | NP_002487.1:p.Pro79Leu |