Linked Data
ClinVar Variation Id:
2899590
ClinVar RCV Id:
RCV003739703
dbSNP Id:
rs753755217
ExAC:
19:36220900 G / A
gnomAD v2:
19-36220900-G-A
gnomAD v3:
19-35729999-G-A
gnomAD v4:
19-35729999-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35729999G>A , CM000681.2:g.35729999G>A | GRCh38 |
| NC_000019.9:g.36220900G>A , CM000681.1:g.36220900G>A | GRCh37 |
| NC_000019.8:g.40912740G>A | NCBI36 |
| NG_052906.1:g.16981G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673918.2:c.4884G>A | ENSP00000501283.1:p.Thr1628= | |
| ENST00000674114.2:c.2491G>A | ENSP00000501039.2:n.2491G>A | |
| ENST00000684977.1:c.168G>A | ENSP00000509384.1:p.Thr56= | |
| ENST00000685168.1:c.376G>A | ||
| ENST00000689544.1:n.103G>A | ||
| ENST00000691421.1:c.171G>A | ENSP00000508674.1:p.Thr57= | |
| ENST00000691855.1:c.4492G>A | ||
| ENST00000692961.1:c.4950G>A | ENSP00000509289.1:p.Thr1650= | |
| ENST00000420124.4:c.4950G>A MANE Select | ENSP00000398837.2:p.Thr1650= | |
| ENST00000673918.1:c.4884G>A | ENSP00000501283.1:p.Thr1628= | |
| ENST00000674114.1:c.2272G>A | ||
| ENST00000420124.2:c.4950G>A | ENSP00000398837.1:p.Thr1650= | |
| NM_014727.2:c.4950G>A | NP_055542.1:p.Thr1650= | |
| XM_011527561.1:c.4884G>A | XP_011525863.1:p.Thr1628= | |
| XM_011527562.1:c.4950G>A | XP_011525864.1:p.Thr1650= | |
| XM_011527563.1:c.4674G>A | XP_011525865.1:p.Thr1558= | |
| XM_011527561.2:c.4386G>A | XP_011525863.2:p.Thr1462= | |
| XM_011527562.2:c.4950G>A | XP_011525864.1:p.Thr1650= | |
| XM_017027544.1:c.4950G>A | XP_016883033.1:p.Thr1650= | |
| XM_017027545.1:c.4386G>A | XP_016883034.1:p.Thr1462= | |
| XM_017027546.1:c.1914G>A | XP_016883035.1:p.Thr638= | |
| NM_014727.3:c.4950G>A MANE Select | NP_055542.1:p.Thr1650= |