Linked Data
dbSNP Id:
rs758305429
ExAC:
19:36223484 G / A
gnomAD v2:
19-36223484-G-A
gnomAD v4:
19-35732583-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35732583G>A , CM000681.2:g.35732583G>A | GRCh38 |
| NC_000019.9:g.36223484G>A , CM000681.1:g.36223484G>A | GRCh37 |
| NC_000019.8:g.40915324G>A | NCBI36 |
| NG_052906.1:g.19565G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.340G>A | ||
| ENST00000673918.2:c.5968G>A | ENSP00000501283.1:p.Ala1990Thr | |
| ENST00000674114.2:c.3575G>A | ENSP00000501039.2:n.3575G>A | |
| ENST00000684977.1:c.1252G>A | ENSP00000509384.1:p.Ala418Thr | |
| ENST00000689544.1:n.1187G>A | ||
| ENST00000691421.1:c.1255G>A | ENSP00000508674.1:p.Ala419Thr | |
| ENST00000691855.1:c.5576G>A | ||
| ENST00000692961.1:c.6034G>A | ENSP00000509289.1:p.Ala2012Thr | |
| ENST00000693677.1:c.704+254G>A | ENSP00000509779.1:n.704+254G>A | |
| ENST00000420124.4:c.6034G>A MANE Select | ENSP00000398837.2:p.Ala2012Thr | |
| ENST00000673918.1:c.5968G>A | ENSP00000501283.1:p.Ala1990Thr | |
| ENST00000674114.1:c.3356G>A | ||
| ENST00000420124.2:c.6034G>A | ENSP00000398837.1:p.Ala2012Thr | |
| NM_014727.2:c.6034G>A | NP_055542.1:p.Ala2012Thr | |
| XM_011527561.1:c.5968G>A | XP_011525863.1:p.Ala1990Thr | |
| XM_011527562.1:c.6034G>A | XP_011525864.1:p.Ala2012Thr | |
| XM_011527563.1:c.5758G>A | XP_011525865.1:p.Ala1920Thr | |
| XM_011527561.2:c.5470G>A | XP_011525863.2:p.Ala1824Thr | |
| XM_011527562.2:c.6034G>A | XP_011525864.1:p.Ala2012Thr | |
| XM_017027544.1:c.6034G>A | XP_016883033.1:p.Ala2012Thr | |
| XM_017027545.1:c.5470G>A | XP_016883034.1:p.Ala1824Thr | |
| XM_017027546.1:c.2998G>A | XP_016883035.1:p.Ala1000Thr | |
| NM_014727.3:c.6034G>A MANE Select | NP_055542.1:p.Ala2012Thr |