Linked Data
dbSNP Id:
rs754228701
ExAC:
1:17672643 C / T
gnomAD v2:
1-17672643-C-T
gnomAD v4:
1-17346148-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17346148C>T , CM000663.2:g.17346148C>T | GRCh38 |
| NC_000001.10:g.17672643C>T , CM000663.1:g.17672643C>T | GRCh37 |
| NC_000001.9:g.17545230C>T | NCBI36 |
| NG_023261.2:g.42959C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.1047+9C>T MANE Select | ENSP00000364597.4:n.1047+9C>T | |
| ENST00000468945.1:n.106+9C>T | ||
| NM_012387.2:c.1047+9C>T | NP_036519.2:n.1047+9C>T | |
| XM_011541150.1:c.861+9C>T | XP_011539452.1:n.861+9C>T | |
| XM_011541151.1:c.1047+9C>T | XP_011539453.1:n.1047+9C>T | |
| XM_011541152.1:c.510+9C>T | XP_011539454.1:n.510+9C>T | |
| XM_011541153.1:c.1047+9C>T | XP_011539455.1:n.1047+9C>T | |
| XM_011541154.1:c.1047+9C>T | XP_011539456.1:n.1047+9C>T | |
| XM_011541155.1:c.1047+9C>T | XP_011539457.1:n.1047+9C>T | |
| XM_011541156.1:c.1047+9C>T | XP_011539458.1:n.1047+9C>T | |
| XM_011541157.1:c.156+9C>T | XP_011539459.1:n.156+9C>T | |
| XM_011541154.2:c.1047+9C>T | XP_011539456.1:n.1047+9C>T | |
| NM_012387.3:c.1047+9C>T MANE Select | NP_036519.2:n.1047+9C>T |