Linked Data
dbSNP Id:
rs1369677938
gnomAD v2:
6-39315849-C-T
gnomAD v3:
6-39348073-C-T
gnomAD v4:
6-39348073-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39348073C>T , CM000668.2:g.39348073C>T | GRCh38 |
| NC_000006.11:g.39315849C>T , CM000668.1:g.39315849C>T | GRCh37 |
| NC_000006.10:g.39423827C>T | NCBI36 |
| NG_054928.1:g.382352G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287152.12:c.2181-1547G>A MANE Select | ENSP00000287152.7:n.2181-1547G>A | |
| ENST00000229913.9:c.534-1547G>A | ENSP00000229913.5:n.534-1547G>A | |
| ENST00000287152.11:c.2181-1547G>A | ENSP00000287152.7:n.2181-1547G>A | |
| ENST00000394362.5:c.534-2284G>A | ENSP00000377889.1:n.534-2284G>A | |
| ENST00000458470.5:c.1856-2284G>A | ||
| ENST00000538893.5:c.534-1547G>A | ENSP00000441435.2:n.534-1547G>A | |
| NM_001289020.1:c.2130-1547G>A | NP_001275949.1:n.2130-1547G>A | |
| NM_001289021.1:c.2013-1547G>A | NP_001275950.1:n.2013-1547G>A | |
| NM_001289024.1:c.534-1547G>A | NP_001275953.1:n.534-1547G>A | |
| NM_145027.4:c.2181-1547G>A | NP_659464.3:n.2181-1547G>A | |
| XM_005248904.3:c.2181-1547G>A | XP_005248961.1:n.2181-1547G>A | |
| XM_011514357.1:c.2181-2284G>A | XP_011512659.1:n.2181-2284G>A | |
| XM_011514358.1:c.2181-1547G>A | XP_011512660.1:n.2181-1547G>A | |
| XM_011514359.1:c.2181-2284G>A | XP_011512661.1:n.2181-2284G>A | |
| XM_011514360.1:c.1554-1547G>A | XP_011512662.1:n.1554-1547G>A | |
| NM_001289020.2:c.2130-1547G>A | NP_001275949.1:n.2130-1547G>A | |
| NM_001289021.2:c.2013-1547G>A | NP_001275950.1:n.2013-1547G>A | |
| NM_001289024.2:c.534-1547G>A | NP_001275953.1:n.534-1547G>A | |
| NM_001351566.1:c.534-1547G>A | NP_001338495.1:n.534-1547G>A | |
| NM_145027.5:c.2181-1547G>A | NP_659464.3:n.2181-1547G>A | |
| XM_005248904.4:c.2181-1547G>A | XP_005248961.1:n.2181-1547G>A | |
| XM_011514357.3:c.2181-2284G>A | XP_011512659.1:n.2181-2284G>A | |
| XM_011514358.3:c.2181-1547G>A | XP_011512660.1:n.2181-1547G>A | |
| XM_011514359.3:c.2181-2284G>A | XP_011512661.1:n.2181-2284G>A | |
| XM_017010427.1:c.1872-1547G>A | XP_016865916.1:n.1872-1547G>A | |
| XM_017010428.1:c.1536-1547G>A | XP_016865917.1:n.1536-1547G>A | |
| NM_145027.6:c.2181-1547G>A MANE Select | NP_659464.3:n.2181-1547G>A | |
| NM_001289020.3:c.2130-1547G>A | NP_001275949.1:n.2130-1547G>A | |
| NM_001289021.3:c.2013-1547G>A | NP_001275950.1:n.2013-1547G>A | |
| NM_001289024.3:c.534-1547G>A | NP_001275953.1:n.534-1547G>A | |
| NM_001351566.2:c.534-1547G>A | NP_001338495.1:n.534-1547G>A |