Linked Data
ClinVar Variation Id:
361905
dbSNP Id:
rs184555568
ExAC:
8:133673753 C / T
gnomAD v2:
8-133673753-C-T
gnomAD v3:
8-132661507-C-T
gnomAD v4:
8-132661507-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132661507C>T , CM000670.2:g.132661507C>T | GRCh38 |
| NC_000008.10:g.133673753C>T , CM000670.1:g.133673753C>T | GRCh37 |
| NC_000008.9:g.133742935C>T | NCBI36 |
| NG_033068.1:g.19111G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000620350.5:c.131G>A MANE Select | ENSP00000484634.1:p.Arg44Gln | |
| ENST00000250173.5:c.131G>A | ENSP00000250173.2:p.Arg44Gln | |
| ENST00000518101.1:n.218G>A | ||
| ENST00000518642.5:c.131G>A | ENSP00000428610.1:p.Arg44Gln | |
| ENST00000519595.5:c.131G>A | ENSP00000429791.1:p.Arg44Gln | |
| ENST00000520446.5:n.230G>A | ||
| ENST00000521430.5:n.373G>A | ||
| ENST00000522584.5:c.131G>A | ENSP00000429811.1:p.Arg44Gln | |
| ENST00000523503.1:n.242+13811G>A | ||
| ENST00000618342.1:c.131G>A | ENSP00000484802.1:p.Arg44Gln | |
| ENST00000620350.4:c.131G>A | ENSP00000484634.1:p.Arg44Gln | |
| NM_012472.4:c.131G>A | NP_036604.2:p.Arg44Gln | |
| NR_073525.1:n.255G>A | ||
| XM_006716538.2:c.149G>A | XP_006716601.2:p.Arg50Gln | |
| XM_011516950.1:c.149G>A | XP_011515252.1:p.Arg50Gln | |
| XM_011516951.1:c.149G>A | XP_011515253.1:p.Arg50Gln | |
| XM_011516952.1:c.10+13977G>A | XP_011515254.1:n.10+13977G>A | |
| XM_011516953.1:c.-230G>A | XP_011515255.1:n.-230G>A | |
| XR_428377.2:n.274G>A | ||
| NM_001321961.1:c.131G>A | NP_001308890.1:p.Arg44Gln | |
| NM_001321962.1:c.10+13977G>A | NP_001308891.1:n.10+13977G>A | |
| NM_001321963.1:c.-230G>A | NP_001308892.1:n.-230G>A | |
| NM_001321964.1:c.-230G>A | NP_001308893.1:n.-230G>A | |
| NM_001321965.1:c.-543G>A | NP_001308894.1:n.-543G>A | |
| NM_001321966.1:c.-230G>A | NP_001308895.1:n.-230G>A | |
| NM_012472.5:c.131G>A | NP_036604.2:p.Arg44Gln | |
| NR_073525.2:n.255G>A | ||
| NR_135905.1:n.255G>A | ||
| NR_135906.1:n.134+13977G>A | ||
| NR_135907.1:n.255G>A | ||
| NR_135908.1:n.134+13977G>A | ||
| NR_135909.1:n.373G>A | ||
| NR_135910.1:n.680G>A | ||
| NR_135911.1:n.884+13051G>A | ||
| NR_135912.1:n.1005G>A | ||
| NR_135913.1:n.1005G>A | ||
| XM_006716538.3:c.149G>A | XP_006716601.2:p.Arg50Gln | |
| XM_011516950.2:c.149G>A | XP_011515252.1:p.Arg50Gln | |
| XM_017013297.1:c.-230G>A | XP_016868786.1:n.-230G>A | |
| XM_017013298.1:c.-334G>A | XP_016868787.1:n.-334G>A | |
| NM_012472.6:c.131G>A MANE Select | NP_036604.2:p.Arg44Gln | |
| NM_001321961.2:c.131G>A | NP_001308890.1:p.Arg44Gln | |
| NM_001321962.2:c.10+13977G>A | NP_001308891.1:n.10+13977G>A | |
| NM_001321963.2:c.-230G>A | NP_001308892.1:n.-230G>A | |
| NM_001321964.2:c.-230G>A | NP_001308893.1:n.-230G>A | |
| NM_001321965.2:c.-543G>A | NP_001308894.1:n.-543G>A | |
| NM_001321966.2:c.-230G>A | NP_001308895.1:n.-230G>A | |
| NR_073525.3:n.183G>A | ||
| NR_135905.2:n.183G>A | ||
| NR_135906.2:n.62+13977G>A | ||
| NR_135907.2:n.183G>A | ||
| NR_135908.2:n.62+13977G>A | ||
| NR_135909.2:n.393G>A | ||
| NR_135910.2:n.743G>A | ||
| NR_135911.2:n.988+13051G>A | ||
| NR_135912.2:n.1109G>A | ||
| NR_135913.2:n.1109G>A |