Linked Data
dbSNP Id:
rs1374785694
gnomAD v2:
19-36220793-C-T
gnomAD v3:
19-35729892-C-T
gnomAD v4:
19-35729892-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35729892C>T , CM000681.2:g.35729892C>T | GRCh38 |
| NC_000019.9:g.36220793C>T , CM000681.1:g.36220793C>T | GRCh37 |
| NC_000019.8:g.40912633C>T | NCBI36 |
| NG_052906.1:g.16874C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673918.2:c.4852-75C>T | ENSP00000501283.1:n.4852-75C>T | |
| ENST00000674114.2:c.2459-75C>T | ENSP00000501039.2:n.2459-75C>T | |
| ENST00000684977.1:c.136-75C>T | ENSP00000509384.1:n.136-75C>T | |
| ENST00000685168.1:c.344-75C>T | ||
| ENST00000689544.1:n.71-75C>T | ||
| ENST00000691421.1:c.139-75C>T | ENSP00000508674.1:n.139-75C>T | |
| ENST00000691855.1:c.4460-75C>T | ||
| ENST00000692961.1:c.4918-75C>T | ENSP00000509289.1:n.4918-75C>T | |
| ENST00000420124.4:c.4918-75C>T MANE Select | ENSP00000398837.2:n.4918-75C>T | |
| ENST00000673918.1:c.4852-75C>T | ENSP00000501283.1:n.4852-75C>T | |
| ENST00000674114.1:c.2240-75C>T | ||
| ENST00000420124.2:c.4918-75C>T | ENSP00000398837.1:n.4918-75C>T | |
| NM_014727.2:c.4918-75C>T | NP_055542.1:n.4918-75C>T | |
| XM_011527561.1:c.4852-75C>T | XP_011525863.1:n.4852-75C>T | |
| XM_011527562.1:c.4918-75C>T | XP_011525864.1:n.4918-75C>T | |
| XM_011527563.1:c.4642-75C>T | XP_011525865.1:n.4642-75C>T | |
| XM_011527561.2:c.4354-75C>T | XP_011525863.2:n.4354-75C>T | |
| XM_011527562.2:c.4918-75C>T | XP_011525864.1:n.4918-75C>T | |
| XM_017027544.1:c.4918-75C>T | XP_016883033.1:n.4918-75C>T | |
| XM_017027545.1:c.4354-75C>T | XP_016883034.1:n.4354-75C>T | |
| XM_017027546.1:c.1882-75C>T | XP_016883035.1:n.1882-75C>T | |
| NM_014727.3:c.4918-75C>T MANE Select | NP_055542.1:n.4918-75C>T |