Linked Data
dbSNP Id:
rs778922921
ExAC:
2:191161682 G / A
gnomAD v2:
2-191161682-G-A
gnomAD v4:
2-190296956-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190296956G>A , CM000664.2:g.190296956G>A | GRCh38 |
| NC_000002.11:g.191161682G>A , CM000664.1:g.191161682G>A | GRCh37 |
| NC_000002.10:g.190869927G>A | NCBI36 |
| NG_017062.1:g.28090C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359678.10:c.79-3C>T MANE Select | ENSP00000352706.5:n.79-3C>T | |
| ENST00000359678.9:c.79-3C>T | ENSP00000352706.5:n.79-3C>T | |
| ENST00000392332.7:c.79-3C>T | ENSP00000376144.3:n.79-3C>T | |
| ENST00000409934.1:c.241-3C>T | ENSP00000387247.1:n.241-3C>T | |
| ENST00000622246.4:c.64-3C>T | ENSP00000481055.1:n.64-3C>T | |
| NM_014362.3:c.79-3C>T | NP_055177.2:n.79-3C>T | |
| NM_198047.2:c.79-3C>T | NP_932164.1:n.79-3C>T | |
| XM_011510953.1:c.79-3C>T | XP_011509255.1:n.79-3C>T | |
| XR_922903.1:n.323-3C>T | ||
| XM_011510953.2:c.79-3C>T | XP_011509255.1:n.79-3C>T | |
| XR_922903.2:n.142-3C>T | ||
| NM_014362.4:c.79-3C>T MANE Select | NP_055177.2:n.79-3C>T | |
| NM_198047.3:c.79-3C>T | NP_932164.1:n.79-3C>T |