Linked Data
ClinVar Variation Id:
2900681
ClinVar RCV Id:
RCV003737272
dbSNP Id:
rs980893923
gnomAD v2:
19-36220862-A-G
gnomAD v3:
19-35729961-A-G
gnomAD v4:
19-35729961-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35729961A>G , CM000681.2:g.35729961A>G | GRCh38 |
| NC_000019.9:g.36220862A>G , CM000681.1:g.36220862A>G | GRCh37 |
| NC_000019.8:g.40912702A>G | NCBI36 |
| NG_052906.1:g.16943A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673918.2:c.4852-6A>G | ENSP00000501283.1:n.4852-6A>G | |
| ENST00000674114.2:c.2459-6A>G | ENSP00000501039.2:n.2459-6A>G | |
| ENST00000684977.1:c.136-6A>G | ENSP00000509384.1:n.136-6A>G | |
| ENST00000685168.1:c.344-6A>G | ||
| ENST00000689544.1:n.71-6A>G | ||
| ENST00000691421.1:c.139-6A>G | ENSP00000508674.1:n.139-6A>G | |
| ENST00000691855.1:c.4460-6A>G | ||
| ENST00000692961.1:c.4918-6A>G | ENSP00000509289.1:n.4918-6A>G | |
| ENST00000420124.4:c.4918-6A>G MANE Select | ENSP00000398837.2:n.4918-6A>G | |
| ENST00000673918.1:c.4852-6A>G | ENSP00000501283.1:n.4852-6A>G | |
| ENST00000674114.1:c.2240-6A>G | ||
| ENST00000420124.2:c.4918-6A>G | ENSP00000398837.1:n.4918-6A>G | |
| NM_014727.2:c.4918-6A>G | NP_055542.1:n.4918-6A>G | |
| XM_011527561.1:c.4852-6A>G | XP_011525863.1:n.4852-6A>G | |
| XM_011527562.1:c.4918-6A>G | XP_011525864.1:n.4918-6A>G | |
| XM_011527563.1:c.4642-6A>G | XP_011525865.1:n.4642-6A>G | |
| XM_011527561.2:c.4354-6A>G | XP_011525863.2:n.4354-6A>G | |
| XM_011527562.2:c.4918-6A>G | XP_011525864.1:n.4918-6A>G | |
| XM_017027544.1:c.4918-6A>G | XP_016883033.1:n.4918-6A>G | |
| XM_017027545.1:c.4354-6A>G | XP_016883034.1:n.4354-6A>G | |
| XM_017027546.1:c.1882-6A>G | XP_016883035.1:n.1882-6A>G | |
| NM_014727.3:c.4918-6A>G MANE Select | NP_055542.1:n.4918-6A>G |