Linked Data
ClinVar Variation Id:
2992316
ClinVar RCV Id:
RCV003855443
dbSNP Id:
rs1458797383
gnomAD v2:
19-36220987-A-G
gnomAD v3:
19-35730086-A-G
gnomAD v4:
19-35730086-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35730086A>G , CM000681.2:g.35730086A>G | GRCh38 |
| NC_000019.9:g.36220987A>G , CM000681.1:g.36220987A>G | GRCh37 |
| NC_000019.8:g.40912827A>G | NCBI36 |
| NG_052906.1:g.17068A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673918.2:c.4971A>G | ENSP00000501283.1:p.Lys1657= | |
| ENST00000674114.2:c.2578A>G | ENSP00000501039.2:n.2578A>G | |
| ENST00000684977.1:c.255A>G | ENSP00000509384.1:p.Lys85= | |
| ENST00000685168.1:c.463A>G | ||
| ENST00000689544.1:n.190A>G | ||
| ENST00000691421.1:c.258A>G | ENSP00000508674.1:p.Lys86= | |
| ENST00000691855.1:c.4579A>G | ||
| ENST00000692961.1:c.5037A>G | ENSP00000509289.1:p.Lys1679= | |
| ENST00000420124.4:c.5037A>G MANE Select | ENSP00000398837.2:p.Lys1679= | |
| ENST00000673918.1:c.4971A>G | ENSP00000501283.1:p.Lys1657= | |
| ENST00000674114.1:c.2359A>G | ||
| ENST00000420124.2:c.5037A>G | ENSP00000398837.1:p.Lys1679= | |
| NM_014727.2:c.5037A>G | NP_055542.1:p.Lys1679= | |
| XM_011527561.1:c.4971A>G | XP_011525863.1:p.Lys1657= | |
| XM_011527562.1:c.5037A>G | XP_011525864.1:p.Lys1679= | |
| XM_011527563.1:c.4761A>G | XP_011525865.1:p.Lys1587= | |
| XM_011527561.2:c.4473A>G | XP_011525863.2:p.Lys1491= | |
| XM_011527562.2:c.5037A>G | XP_011525864.1:p.Lys1679= | |
| XM_017027544.1:c.5037A>G | XP_016883033.1:p.Lys1679= | |
| XM_017027545.1:c.4473A>G | XP_016883034.1:p.Lys1491= | |
| XM_017027546.1:c.2001A>G | XP_016883035.1:p.Lys667= | |
| NM_014727.3:c.5037A>G MANE Select | NP_055542.1:p.Lys1679= |