Linked Data
ClinVar Variation Id:
260273
dbSNP Id:
rs139131485
ExAC:
8:133584564 G / A
gnomAD v2:
8-133584564-G-A
gnomAD v3:
8-132572316-G-A
gnomAD v4:
8-132572316-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132572316G>A , CM000670.2:g.132572316G>A | GRCh38 |
| NC_000008.10:g.133584564G>A , CM000670.1:g.133584564G>A | GRCh37 |
| NC_000008.9:g.133653746G>A | NCBI36 |
| NG_033068.1:g.108300C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620350.5:c.1391C>T MANE Select | ENSP00000484634.1:p.Pro464Leu | |
| ENST00000250173.5:c.*255C>T | ENSP00000250173.2:n.*255C>T | |
| ENST00000518642.5:c.*255C>T | ENSP00000428610.1:n.*255C>T | |
| ENST00000519595.5:c.1391C>T | ENSP00000429791.1:p.Pro464Leu | |
| ENST00000522789.5:c.611C>T | ENSP00000428015.1:p.Pro204Leu | |
| ENST00000618342.1:c.1391C>T | ENSP00000484802.1:p.Pro464Leu | |
| ENST00000620350.4:c.1391C>T | ENSP00000484634.1:p.Pro464Leu | |
| NM_012472.4:c.1391C>T | NP_036604.2:p.Pro464Leu | |
| NR_073525.1:n.1615C>T | ||
| XM_006716538.2:c.1409C>T | XP_006716601.2:p.Pro470Leu | |
| XM_011516950.1:c.1349C>T | XP_011515252.1:p.Pro450Leu | |
| XM_011516952.1:c.1145C>T | XP_011515254.1:p.Pro382Leu | |
| XM_011516953.1:c.1031C>T | XP_011515255.1:p.Pro344Leu | |
| XM_011516954.1:c.1031C>T | XP_011515256.1:p.Pro344Leu | |
| XR_428377.2:n.1643C>T | ||
| NM_001321961.1:c.1331C>T | NP_001308890.1:p.Pro444Leu | |
| NM_001321962.1:c.1145C>T | NP_001308891.1:p.Pro382Leu | |
| NM_001321963.1:c.1031C>T | NP_001308892.1:p.Pro344Leu | |
| NM_001321964.1:c.1031C>T | NP_001308893.1:p.Pro344Leu | |
| NM_001321965.1:c.1031C>T | NP_001308894.1:p.Pro344Leu | |
| NM_001321966.1:c.971C>T | NP_001308895.1:p.Pro324Leu | |
| NM_012472.5:c.1391C>T | NP_036604.2:p.Pro464Leu | |
| NR_073525.2:n.1615C>T | ||
| NR_135905.1:n.1604C>T | ||
| NR_135906.1:n.1045C>T | ||
| NR_135907.1:n.1291C>T | ||
| NR_135908.1:n.985C>T | ||
| NR_135909.1:n.1409C>T | ||
| NR_135910.1:n.1716C>T | ||
| NR_135911.1:n.1795C>T | ||
| NR_135912.1:n.2354C>T | ||
| NR_135913.1:n.2041C>T | ||
| XM_006716538.3:c.1409C>T | XP_006716601.2:p.Pro470Leu | |
| XM_011516950.2:c.1349C>T | XP_011515252.1:p.Pro450Leu | |
| XM_017013296.1:c.1289C>T | XP_016868785.1:p.Pro430Leu | |
| XM_017013297.1:c.1031C>T | XP_016868786.1:p.Pro344Leu | |
| XM_017013298.1:c.1031C>T | XP_016868787.1:p.Pro344Leu | |
| NM_012472.6:c.1391C>T MANE Select | NP_036604.2:p.Pro464Leu | |
| NM_001321961.2:c.1331C>T | NP_001308890.1:p.Pro444Leu | |
| NM_001321962.2:c.1145C>T | NP_001308891.1:p.Pro382Leu | |
| NM_001321963.2:c.1031C>T | NP_001308892.1:p.Pro344Leu | |
| NM_001321964.2:c.1031C>T | NP_001308893.1:p.Pro344Leu | |
| NM_001321965.2:c.1031C>T | NP_001308894.1:p.Pro344Leu | |
| NM_001321966.2:c.971C>T | NP_001308895.1:p.Pro324Leu | |
| NR_073525.3:n.1543C>T | ||
| NR_135905.2:n.1532C>T | ||
| NR_135906.2:n.973C>T | ||
| NR_135907.2:n.1219C>T | ||
| NR_135908.2:n.913C>T | ||
| NR_135909.2:n.1429C>T | ||
| NR_135910.2:n.1779C>T | ||
| NR_135911.2:n.1899C>T | ||
| NR_135912.2:n.2458C>T | ||
| NR_135913.2:n.2145C>T |