Linked Data
dbSNP Id:
rs115056843
ExAC:
5:141026718 G / A
gnomAD v2:
5-141026718-G-A
gnomAD v3:
5-141647151-G-A
gnomAD v4:
5-141647151-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141647151G>A , CM000667.2:g.141647151G>A | GRCh38 |
| NC_000005.9:g.141026718G>A , CM000667.1:g.141026718G>A | GRCh37 |
| NC_000005.8:g.141006902G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435817.7:c.908C>T MANE Select | ENSP00000399259.2:p.Pro303Leu | |
| ENST00000435817.6:c.908C>T | ENSP00000399259.2:p.Pro303Leu | |
| ENST00000522126.5:c.680C>T | ENSP00000427796.1:p.Pro227Leu | |
| ENST00000522386.1:n.514C>T | ||
| ENST00000522763.5:n.212C>T | ||
| ENST00000522783.5:c.902C>T | ENSP00000428677.1:p.Pro301Leu | |
| ENST00000523856.5:n.166C>T | ||
| NM_033449.2:c.908C>T | NP_258260.1:p.Pro303Leu | |
| XM_005268524.3:c.902C>T | XP_005268581.1:p.Pro301Leu | |
| XM_006714803.2:c.779C>T | XP_006714866.1:p.Pro260Leu | |
| XM_011537698.1:c.908C>T | XP_011536000.1:p.Pro303Leu | |
| XM_011537699.1:c.908C>T | XP_011536001.1:p.Pro303Leu | |
| XM_011537700.1:c.908C>T | XP_011536002.1:p.Pro303Leu | |
| XM_011537701.1:c.908C>T | XP_011536003.1:p.Pro303Leu | |
| XR_427781.2:n.962C>T | ||
| XR_944338.1:n.968C>T | ||
| XR_944339.1:n.968C>T | ||
| XM_005268524.5:c.902C>T | XP_005268581.1:p.Pro301Leu | |
| XM_006714803.4:c.779C>T | XP_006714866.1:p.Pro260Leu | |
| XM_011537698.3:c.908C>T | XP_011536000.1:p.Pro303Leu | |
| XM_011537700.3:c.908C>T | XP_011536002.1:p.Pro303Leu | |
| XM_011537701.3:c.908C>T | XP_011536003.1:p.Pro303Leu | |
| XM_017010013.2:c.908C>T | XP_016865502.1:p.Pro303Leu | |
| XR_002956197.1:n.904C>T | ||
| XR_427781.4:n.904C>T | ||
| XR_944338.3:n.983C>T | ||
| XR_944339.3:n.983C>T | ||
| NM_033449.3:c.908C>T MANE Select | NP_258260.1:p.Pro303Leu |