Linked Data
dbSNP Id:
rs538519292
ExAC:
8:133584541 G / A
gnomAD v2:
8-133584541-G-A
gnomAD v3:
8-132572293-G-A
gnomAD v4:
8-132572293-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132572293G>A , CM000670.2:g.132572293G>A | GRCh38 |
| NC_000008.10:g.133584541G>A , CM000670.1:g.133584541G>A | GRCh37 |
| NC_000008.9:g.133653723G>A | NCBI36 |
| NG_033068.1:g.108323C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620350.5:c.*13C>T MANE Select | ENSP00000484634.1:n.*13C>T | |
| ENST00000250173.5:c.*278C>T | ENSP00000250173.2:n.*278C>T | |
| ENST00000518642.5:c.*278C>T | ENSP00000428610.1:n.*278C>T | |
| ENST00000519595.5:c.*13C>T | ENSP00000429791.1:n.*13C>T | |
| ENST00000522789.5:c.634C>T | ENSP00000428015.1:n.634C>T | |
| ENST00000618342.1:c.1414C>T | ENSP00000484802.1:n.1414C>T | |
| ENST00000620350.4:c.*13C>T | ENSP00000484634.1:n.*13C>T | |
| NM_012472.4:c.*13C>T | NP_036604.2:n.*13C>T | |
| NR_073525.1:n.1638C>T | ||
| XM_006716538.2:c.*13C>T | XP_006716601.2:n.*13C>T | |
| XM_011516950.1:c.*13C>T | XP_011515252.1:n.*13C>T | |
| XM_011516952.1:c.*13C>T | XP_011515254.1:n.*13C>T | |
| XM_011516953.1:c.*13C>T | XP_011515255.1:n.*13C>T | |
| XM_011516954.1:c.*13C>T | XP_011515256.1:n.*13C>T | |
| XR_428377.2:n.1666C>T | ||
| NM_001321961.1:c.*13C>T | NP_001308890.1:n.*13C>T | |
| NM_001321962.1:c.*13C>T | NP_001308891.1:n.*13C>T | |
| NM_001321963.1:c.*13C>T | NP_001308892.1:n.*13C>T | |
| NM_001321964.1:c.*13C>T | NP_001308893.1:n.*13C>T | |
| NM_001321965.1:c.*13C>T | NP_001308894.1:n.*13C>T | |
| NM_001321966.1:c.*13C>T | NP_001308895.1:n.*13C>T | |
| NM_012472.5:c.*13C>T | NP_036604.2:n.*13C>T | |
| NR_073525.2:n.1638C>T | ||
| NR_135905.1:n.1627C>T | ||
| NR_135906.1:n.1068C>T | ||
| NR_135907.1:n.1314C>T | ||
| NR_135908.1:n.1008C>T | ||
| NR_135909.1:n.1432C>T | ||
| NR_135910.1:n.1739C>T | ||
| NR_135911.1:n.1818C>T | ||
| NR_135912.1:n.2377C>T | ||
| NR_135913.1:n.2064C>T | ||
| XM_006716538.3:c.*13C>T | XP_006716601.2:n.*13C>T | |
| XM_011516950.2:c.*13C>T | XP_011515252.1:n.*13C>T | |
| XM_017013296.1:c.*13C>T | XP_016868785.1:n.*13C>T | |
| XM_017013297.1:c.*13C>T | XP_016868786.1:n.*13C>T | |
| XM_017013298.1:c.*13C>T | XP_016868787.1:n.*13C>T | |
| NM_012472.6:c.*13C>T MANE Select | NP_036604.2:n.*13C>T | |
| NM_001321961.2:c.*13C>T | NP_001308890.1:n.*13C>T | |
| NM_001321962.2:c.*13C>T | NP_001308891.1:n.*13C>T | |
| NM_001321963.2:c.*13C>T | NP_001308892.1:n.*13C>T | |
| NM_001321964.2:c.*13C>T | NP_001308893.1:n.*13C>T | |
| NM_001321965.2:c.*13C>T | NP_001308894.1:n.*13C>T | |
| NM_001321966.2:c.*13C>T | NP_001308895.1:n.*13C>T | |
| NR_073525.3:n.1566C>T | ||
| NR_135905.2:n.1555C>T | ||
| NR_135906.2:n.996C>T | ||
| NR_135907.2:n.1242C>T | ||
| NR_135908.2:n.936C>T | ||
| NR_135909.2:n.1452C>T | ||
| NR_135910.2:n.1802C>T | ||
| NR_135911.2:n.1922C>T | ||
| NR_135912.2:n.2481C>T | ||
| NR_135913.2:n.2168C>T |