Linked Data
dbSNP Id:
rs780611575
ExAC:
12:121615202 G / A
gnomAD v2:
12-121615202-G-A
gnomAD v3:
12-121177399-G-A
gnomAD v4:
12-121177399-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121177399G>A , CM000674.2:g.121177399G>A | GRCh38 |
| NC_000012.11:g.121615202G>A , CM000674.1:g.121615202G>A | GRCh37 |
| NC_000012.10:g.120099585G>A | NCBI36 |
| NG_011471.2:g.49525G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328963.10:c.1141G>A MANE Select | ENSP00000330696.6:p.Glu381Lys | |
| ENST00000261826.10:c.*594G>A | ENSP00000261826.6:n.*594G>A | |
| ENST00000328963.9:c.1141G>A | ENSP00000330696.6:p.Glu381Lys | |
| ENST00000535250.5:c.1225G>A | ENSP00000442572.2:n.1225G>A | |
| ENST00000535600.2:c.958G>A | ENSP00000442470.1:n.958G>A | |
| ENST00000537312.5:c.*912G>A | ENSP00000438586.1:n.*912G>A | |
| ENST00000538011.5:c.1280G>A | ENSP00000439247.1:n.1280G>A | |
| ENST00000539606.5:c.1364G>A | ENSP00000445325.1:n.1364G>A | |
| ENST00000539695.5:n.1310G>A | ||
| ENST00000541022.5:c.931G>A | ENSP00000441230.1:n.931G>A | |
| ENST00000541564.5:c.1004G>A | ENSP00000443640.1:n.1004G>A | |
| ENST00000541716.5:c.1152G>A | ENSP00000437729.1:n.1152G>A | |
| NM_002562.5:c.1141G>A | NP_002553.3:p.Glu381Lys | |
| NR_033948.1:n.1507G>A | ||
| NR_033949.1:n.1423G>A | ||
| NR_033950.1:n.1384G>A | ||
| NR_033951.1:n.1368G>A | ||
| NR_033952.1:n.1295G>A | ||
| NR_033953.1:n.1208G>A | ||
| NR_033954.1:n.1187G>A | ||
| NR_033955.1:n.1147G>A | ||
| NR_033956.1:n.1074G>A | ||
| XM_011538418.1:c.874G>A | XP_011536720.1:p.Glu292Lys | |
| XM_011538419.1:c.829G>A | XP_011536721.1:p.Glu277Lys | |
| XM_011538420.1:c.274G>A | XP_011536722.1:p.Glu92Lys | |
| XR_945459.1:n.190-14982C>T | ||
| XR_945460.1:n.299-14982C>T | ||
| XM_011538419.3:c.829G>A | XP_011536721.1:p.Glu277Lys | |
| XM_011538420.3:c.274G>A | XP_011536722.1:p.Glu92Lys | |
| XM_017019364.2:c.781G>A | XP_016874853.1:p.Glu261Lys | |
| XM_017019365.2:c.781G>A | XP_016874854.1:p.Glu261Lys | |
| XM_017019366.2:c.388G>A | XP_016874855.1:p.Glu130Lys | |
| XM_017019367.2:c.388G>A | XP_016874856.1:p.Glu130Lys | |
| XR_001749352.2:n.186+26099C>T | ||
| XR_001749353.2:n.304-14982C>T | ||
| XR_001749354.2:n.186+26099C>T | ||
| XR_945459.3:n.187-14982C>T | ||
| XR_945460.3:n.299-14982C>T | ||
| NM_002562.6:c.1141G>A MANE Select | NP_002553.3:p.Glu381Lys | |
| NR_033948.2:n.1459G>A | ||
| NR_033949.2:n.1375G>A | ||
| NR_033950.2:n.1336G>A | ||
| NR_033951.2:n.1320G>A | ||
| NR_033952.2:n.1247G>A | ||
| NR_033953.2:n.1151G>A | ||
| NR_033954.2:n.1139G>A | ||
| NR_033955.2:n.1099G>A | ||
| NR_033956.2:n.1026G>A |