Linked Data
ClinVar Variation Id:
97001
dbSNP Id:
rs431905512
ExAC:
6:144507937 T / C
gnomAD v2:
6-144507937-T-C
gnomAD v4:
6-144186800-T-C
PubMed:
PMID:24459464
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.144186800T>C , CM000668.2:g.144186800T>C | GRCh38 |
| NC_000006.11:g.144507937T>C , CM000668.1:g.144507937T>C | GRCh37 |
| NC_000006.10:g.144549630T>C | NCBI36 |
| NG_007613.1:g.41284T>C , LRG_113:g.41284T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698355.1:c.173T>C | ENSP00000513678.1:p.Leu58Pro | |
| ENST00000698356.1:c.173T>C | ENSP00000513679.1:p.Leu58Pro | |
| ENST00000698357.1:c.173T>C | ENSP00000513680.1:p.Leu58Pro | |
| ENST00000367568.5:c.173T>C MANE Select | ENSP00000356540.4:p.Leu58Pro | |
| ENST00000367568.4:c.173T>C | ENSP00000356540.4:p.Leu58Pro | |
| NM_003764.3:c.173T>C , LRG_113t1:c.173T>C | NP_003755.2:p.Leu58Pro | |
| XM_011536213.1:c.251T>C | XP_011534515.1:p.Leu84Pro | |
| XM_011536214.1:c.173T>C | XP_011534516.1:p.Leu58Pro | |
| XM_011536215.1:c.173T>C | XP_011534517.1:p.Leu58Pro | |
| XM_011536216.1:c.173T>C | XP_011534518.1:p.Leu58Pro | |
| XM_011536217.1:c.173T>C | XP_011534519.1:p.Leu58Pro | |
| XM_011536218.1:c.173T>C | XP_011534520.1:p.Leu58Pro | |
| XM_011536213.2:c.251T>C | XP_011534515.1:p.Leu84Pro | |
| XM_011536214.2:c.173T>C | XP_011534516.1:p.Leu58Pro | |
| XM_011536217.2:c.173T>C | XP_011534519.1:p.Leu58Pro | |
| XM_011536218.2:c.173T>C | XP_011534520.1:p.Leu58Pro | |
| XM_017011400.1:c.173T>C | XP_016866889.1:p.Leu58Pro | |
| NM_003764.4:c.173T>C MANE Select | NP_003755.2:p.Leu58Pro |