Linked Data
ClinVar Variation Id:
1305406
ClinVar RCV Id:
RCV001768613
dbSNP Id:
rs1038476972
gnomAD v4:
19-35730027-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35730027A>G , CM000681.2:g.35730027A>G | GRCh38 |
| NC_000019.9:g.36220928A>G , CM000681.1:g.36220928A>G | GRCh37 |
| NC_000019.8:g.40912768A>G | NCBI36 |
| NG_052906.1:g.17009A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673918.2:c.4912A>G | ENSP00000501283.1:p.Ser1638Gly | |
| ENST00000674114.2:c.2519A>G | ENSP00000501039.2:n.2519A>G | |
| ENST00000684977.1:c.196A>G | ENSP00000509384.1:p.Ser66Gly | |
| ENST00000685168.1:c.404A>G | ||
| ENST00000689544.1:n.131A>G | ||
| ENST00000691421.1:c.199A>G | ENSP00000508674.1:p.Ser67Gly | |
| ENST00000691855.1:c.4520A>G | ||
| ENST00000692961.1:c.4978A>G | ENSP00000509289.1:p.Ser1660Gly | |
| ENST00000420124.4:c.4978A>G MANE Select | ENSP00000398837.2:p.Ser1660Gly | |
| ENST00000673918.1:c.4912A>G | ENSP00000501283.1:p.Ser1638Gly | |
| ENST00000674114.1:c.2300A>G | ||
| ENST00000420124.2:c.4978A>G | ENSP00000398837.1:p.Ser1660Gly | |
| NM_014727.2:c.4978A>G | NP_055542.1:p.Ser1660Gly | |
| XM_011527561.1:c.4912A>G | XP_011525863.1:p.Ser1638Gly | |
| XM_011527562.1:c.4978A>G | XP_011525864.1:p.Ser1660Gly | |
| XM_011527563.1:c.4702A>G | XP_011525865.1:p.Ser1568Gly | |
| XM_011527561.2:c.4414A>G | XP_011525863.2:p.Ser1472Gly | |
| XM_011527562.2:c.4978A>G | XP_011525864.1:p.Ser1660Gly | |
| XM_017027544.1:c.4978A>G | XP_016883033.1:p.Ser1660Gly | |
| XM_017027545.1:c.4414A>G | XP_016883034.1:p.Ser1472Gly | |
| XM_017027546.1:c.1942A>G | XP_016883035.1:p.Ser648Gly | |
| NM_014727.3:c.4978A>G MANE Select | NP_055542.1:p.Ser1660Gly |