Linked Data
ClinVar Variation Id:
1990192
ClinVar RCV Id:
RCV002800762
dbSNP Id:
rs530895091
ExAC:
1:205131360 G / A
gnomAD v2:
1-205131360-G-A
gnomAD v3:
1-205162232-G-A
gnomAD v4:
1-205162232-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205162232G>A , CM000663.2:g.205162232G>A | GRCh38 |
| NC_000001.10:g.205131360G>A , CM000663.1:g.205131360G>A | GRCh37 |
| NC_000001.9:g.203397983G>A | NCBI36 |
| NG_033904.1:g.54368C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367162.8:c.1642-20C>T MANE Select | ENSP00000356130.3:n.1642-20C>T | |
| ENST00000367161.7:c.1642-20C>T | ENSP00000356129.3:n.1642-20C>T | |
| ENST00000367162.7:c.1642-20C>T | ENSP00000356130.3:n.1642-20C>T | |
| ENST00000615388.1:c.25-20C>T | ENSP00000478016.1:n.25-20C>T | |
| NM_015375.2:c.1642-20C>T | NP_056190.1:n.1642-20C>T | |
| NM_199462.2:c.1642-20C>T | NP_955749.1:n.1642-20C>T | |
| XM_011509392.1:c.1615-20C>T | XP_011507694.1:n.1615-20C>T | |
| XM_011509393.1:c.1057-20C>T | XP_011507695.1:n.1057-20C>T | |
| XM_011509394.1:c.1015-20C>T | XP_011507696.1:n.1015-20C>T | |
| XM_011509392.2:c.1615-20C>T | XP_011507694.1:n.1615-20C>T | |
| XM_011509393.2:c.1057-20C>T | XP_011507695.1:n.1057-20C>T | |
| XM_011509394.2:c.1015-20C>T | XP_011507696.1:n.1015-20C>T | |
| NM_015375.3:c.1642-20C>T MANE Select | NP_056190.1:n.1642-20C>T | |
| NM_199462.3:c.1642-20C>T | NP_955749.1:n.1642-20C>T |