Linked Data
ClinVar Variation Id:
215775
dbSNP Id:
rs373161548
ExAC:
19:10941702 C / T
gnomAD v2:
19-10941702-C-T
gnomAD v3:
19-10831026-C-T
gnomAD v4:
19-10831026-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10831026C>T , CM000681.2:g.10831026C>T | GRCh38 |
| NC_000019.9:g.10941702C>T , CM000681.1:g.10941702C>T | GRCh37 |
| NC_000019.8:g.10802702C>T | NCBI36 |
| NG_008792.1:g.117948C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681972.1:n.2023C>T | ||
| ENST00000355667.11:c.2592C>T | ENSP00000347890.6:p.Ala864= | |
| ENST00000389253.9:c.2592C>T MANE Select | ENSP00000373905.4:p.Ala864= | |
| ENST00000355667.10:c.2592C>T | ENSP00000347890.6:p.Ala864= | |
| ENST00000359692.10:c.2580C>T | ENSP00000352721.6:p.Ala860= | |
| ENST00000389253.8:c.2592C>T | ENSP00000373905.3:p.Ala864= | |
| ENST00000408974.8:c.2580C>T | ENSP00000386192.3:p.Ala860= | |
| ENST00000585892.5:c.2589C>T | ENSP00000468734.1:p.Ala863= | |
| ENST00000590806.5:n.4780C>T | ||
| ENST00000591818.1:c.41+648C>T | ENSP00000466621.1:n.41+648C>T | |
| ENST00000593203.1:n.1326+648C>T | ||
| NM_001005360.2:c.2592C>T | NP_001005360.1:p.Ala864= | |
| NM_001005361.2:c.2592C>T | NP_001005361.1:p.Ala864= | |
| NM_001005362.2:c.2580C>T | NP_001005362.1:p.Ala860= | |
| NM_001190716.1:c.2589C>T | NP_001177645.1:p.Ala863= | |
| NM_004945.3:c.2580C>T | NP_004936.2:p.Ala860= | |
| NM_001005361.3:c.2592C>T MANE Select | NP_001005361.1:p.Ala864= | |
| NM_001190716.2:c.2589C>T | NP_001177645.1:p.Ala863= | |
| NM_001005360.3:c.2592C>T | NP_001005360.1:p.Ala864= | |
| NM_001005362.3:c.2580C>T | NP_001005362.1:p.Ala860= | |
| NM_004945.4:c.2580C>T | NP_004936.2:p.Ala860= |