Linked Data
dbSNP Id:
rs12610518
gnomAD v2:
19-36224643-C-T
gnomAD v3:
19-35733742-C-T
gnomAD v4:
19-35733742-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35733742C>T , CM000681.2:g.35733742C>T | GRCh38 |
| NC_000019.9:g.36224643C>T , CM000681.1:g.36224643C>T | GRCh37 |
| NC_000019.8:g.40916483C>T | NCBI36 |
| NG_052906.1:g.20724C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.1499C>T | ||
| ENST00000673918.2:c.6984-21C>T | ENSP00000501283.1:n.6984-21C>T | |
| ENST00000674114.2:c.4591-21C>T | ENSP00000501039.2:n.4591-21C>T | |
| ENST00000684977.1:c.2245-21C>T | ENSP00000509384.1:n.2245-21C>T | |
| ENST00000689544.1:n.2291-21C>T | ||
| ENST00000691421.1:c.2181-21C>T | ENSP00000508674.1:n.2181-21C>T | |
| ENST00000691855.1:c.6592-21C>T | ||
| ENST00000692961.1:c.6960-7C>T | ENSP00000509289.1:n.6960-7C>T | |
| ENST00000693677.1:c.795-21C>T | ENSP00000509779.1:n.795-21C>T | |
| ENST00000420124.4:c.7050-21C>T MANE Select | ENSP00000398837.2:n.7050-21C>T | |
| ENST00000673918.1:c.6984-21C>T | ENSP00000501283.1:n.6984-21C>T | |
| ENST00000674114.1:c.4372-21C>T | ||
| ENST00000420124.2:c.7050-21C>T | ENSP00000398837.1:n.7050-21C>T | |
| ENST00000592092.1:n.430-21C>T | ||
| NM_014727.2:c.7050-21C>T | NP_055542.1:n.7050-21C>T | |
| XM_011527561.1:c.6984-21C>T | XP_011525863.1:n.6984-21C>T | |
| XM_011527562.1:c.7050-21C>T | XP_011525864.1:n.7050-21C>T | |
| XM_011527563.1:c.6774-21C>T | XP_011525865.1:n.6774-21C>T | |
| XM_011527561.2:c.6486-21C>T | XP_011525863.2:n.6486-21C>T | |
| XM_011527562.2:c.7050-21C>T | XP_011525864.1:n.7050-21C>T | |
| XM_017027544.1:c.6960-21C>T | XP_016883033.1:n.6960-21C>T | |
| XM_017027545.1:c.6486-21C>T | XP_016883034.1:n.6486-21C>T | |
| XM_017027546.1:c.4014-21C>T | XP_016883035.1:n.4014-21C>T | |
| NM_014727.3:c.7050-21C>T MANE Select | NP_055542.1:n.7050-21C>T |