Linked Data
dbSNP Id:
rs11625206
gnomAD v2:
14-71194153-C-T
gnomAD v3:
14-70727436-C-T
gnomAD v4:
14-70727436-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.70727436C>T , CM000676.2:g.70727436C>T | GRCh38 |
| NC_000014.8:g.71194153C>T , CM000676.1:g.71194153C>T | GRCh37 |
| NC_000014.7:g.70263906C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000554752.7:c.*2944G>A MANE Select | ENSP00000451612.2:n.*2944G>A | |
| ENST00000554752.6:c.6259G>A | ENSP00000451612.2:n.6259G>A | |
| ENST00000611979.4:c.5587G>A | ENSP00000480011.1:n.5587G>A | |
| NM_001284230.1:c.6259G>A | NP_001271159.1:n.6259G>A | |
| NM_001284231.1:c.*2944G>A | NP_001271160.1:n.*2944G>A | |
| NM_001284232.1:c.*2944G>A | NP_001271161.1:n.*2944G>A | |
| NM_033141.3:c.6301G>A | NP_149132.2:n.6301G>A | |
| XM_005267683.3:c.*2944G>A | XP_005267740.1:n.*2944G>A | |
| XM_011536788.1:c.*2944G>A | XP_011535090.1:n.*2944G>A | |
| XM_011536789.1:c.*2944G>A | XP_011535091.1:n.*2944G>A | |
| XM_011536790.1:c.*2944G>A | XP_011535092.1:n.*2944G>A | |
| XM_011536791.1:c.*2944G>A | XP_011535093.1:n.*2944G>A | |
| XM_011536792.1:c.*2944G>A | XP_011535094.1:n.*2944G>A | |
| XM_011536793.1:c.*2944G>A | XP_011535095.1:n.*2944G>A | |
| XM_011536794.1:c.*2944G>A | XP_011535096.1:n.*2944G>A | |
| XM_005267683.5:c.*2944G>A | XP_005267740.1:n.*2944G>A | |
| XM_011536788.3:c.*2944G>A | XP_011535090.1:n.*2944G>A | |
| XM_011536794.2:c.*2944G>A | XP_011535096.1:n.*2944G>A | |
| NM_033141.4:c.*2944G>A | NP_149132.2:n.*2944G>A | |
| NM_001284230.2:c.*2944G>A MANE Select | NP_001271159.1:n.*2944G>A |