Linked Data
ClinVar Variation Id:
444045
dbSNP Id:
rs548527219
gnomAD v2:
15-44964623-G-A
gnomAD v3:
15-44672425-G-A
gnomAD v4:
15-44672425-G-A
COSMIC:
COSM3786517
PubMed:
PMID:28965844
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44672425G>A , CM000677.2:g.44672425G>A | GRCh38 |
| NC_000015.9:g.44964623G>A , CM000677.1:g.44964623G>A | GRCh37 |
| NC_000015.8:g.42751915G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682850.1:c.478C>T MANE Select | ENSP00000508024.1:p.Arg160Ter | |
| ENST00000434130.6:c.478C>T | ENSP00000416673.1:p.Arg160Ter | |
| ENST00000434130.5:c.478C>T | ENSP00000416673.1:p.Arg160Ter | |
| ENST00000558481.5:c.390C>T | ||
| ENST00000560110.1:c.217C>T | ENSP00000453898.1:p.Arg73Ter | |
| ENST00000560775.5:c.478C>T | ENSP00000453915.1:p.Arg160Ter | |
| ENST00000560780.1:c.-173C>T | ENSP00000453695.1:n.-173C>T | |
| NM_001145112.1:c.478C>T | NP_001138584.1:p.Arg160Ter | |
| XM_005254224.2:c.478C>T | XP_005254281.1:p.Arg160Ter | |
| XM_011521336.1:c.478C>T | XP_011519638.1:p.Arg160Ter | |
| XM_011521337.1:c.469C>T | XP_011519639.1:p.Arg157Ter | |
| XM_011521338.1:c.478C>T | XP_011519640.1:p.Arg160Ter | |
| XM_011521339.1:c.478C>T | XP_011519641.1:p.Arg160Ter | |
| XM_011521340.1:c.478C>T | XP_011519642.1:p.Arg160Ter | |
| XM_011521341.1:c.478C>T | XP_011519643.1:p.Arg160Ter | |
| XM_011521342.1:c.256C>T | XP_011519644.1:p.Arg86Ter | |
| XM_011521343.1:c.226C>T | XP_011519645.1:p.Arg76Ter | |
| XM_011521344.1:c.226C>T | XP_011519646.1:p.Arg76Ter | |
| XM_011521345.1:c.217C>T | XP_011519647.1:p.Arg73Ter | |
| XM_011521346.1:c.223-2338C>T | XP_011519648.1:n.223-2338C>T | |
| XM_011521347.1:c.-173C>T | XP_011519649.1:n.-173C>T | |
| XM_011521348.1:c.-173C>T | XP_011519650.1:n.-173C>T | |
| NM_001330283.1:c.-173C>T | NP_001317212.1:n.-173C>T | |
| XM_011521336.2:c.592C>T | XP_011519638.2:p.Arg198Ter | |
| XM_011521337.2:c.583C>T | XP_011519639.2:p.Arg195Ter | |
| XM_011521338.3:c.478C>T | XP_011519640.1:p.Arg160Ter | |
| XM_011521339.3:c.478C>T | XP_011519641.1:p.Arg160Ter | |
| XM_011521340.3:c.478C>T | XP_011519642.1:p.Arg160Ter | |
| XM_011521342.2:c.256C>T | XP_011519644.1:p.Arg86Ter | |
| XM_011521343.3:c.226C>T | XP_011519645.1:p.Arg76Ter | |
| XM_011521344.3:c.226C>T | XP_011519646.1:p.Arg76Ter | |
| XM_011521345.3:c.217C>T | XP_011519647.1:p.Arg73Ter | |
| XM_011521346.2:c.337-2338C>T | XP_011519648.2:n.337-2338C>T | |
| XM_017022000.2:c.592C>T | XP_016877489.1:p.Arg198Ter | |
| XM_017022001.2:c.217C>T | XP_016877490.1:p.Arg73Ter | |
| NM_001145112.2:c.478C>T | NP_001138584.1:p.Arg160Ter | |
| NM_001330283.2:c.-173C>T | NP_001317212.1:n.-173C>T | |
| NM_001387260.1:c.478C>T | NP_001374189.1:p.Arg160Ter | |
| NM_001387261.1:c.478C>T | NP_001374190.1:p.Arg160Ter | |
| NM_001387262.1:c.478C>T | NP_001374191.1:p.Arg160Ter | |
| NM_001387263.1:c.478C>T MANE Select | NP_001374192.1:p.Arg160Ter | |
| NM_001387264.1:c.478C>T | NP_001374193.1:p.Arg160Ter |