Linked Data
ClinVar Variation Id:
581377
ClinVar RCV Id:
RCV000705185
dbSNP Id:
rs200007767
gnomAD v3:
9-137167426-C-A
gnomAD v4:
9-137167426-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137167426C>A , CM000671.2:g.137167426C>A | GRCh38 |
| NC_000009.11:g.140061878C>A , CM000671.1:g.140061878C>A | GRCh37 |
| NC_000009.10:g.139181699C>A | NCBI36 |
| NG_011507.1:g.33270C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371553.8:c.2764-348C>A | ENSP00000360608.3:n.2764-348C>A | |
| ENST00000371560.5:c.2653-348C>A | ENSP00000360615.3:n.2653-348C>A | |
| ENST00000371561.8:c.2716C>A MANE Select | ENSP00000360616.3:p.Arg906Ser | |
| ENST00000371546.8:c.2779C>A | ENSP00000360601.4:p.Arg927Ser | |
| ENST00000371550.8:c.2605C>A | ENSP00000360605.4:p.Arg869Ser | |
| ENST00000371553.7:c.2764-348C>A | ENSP00000360608.3:n.2764-348C>A | |
| ENST00000371555.8:c.2668C>A | ENSP00000360610.4:p.Arg890Ser | |
| ENST00000371559.8:c.2590-348C>A | ENSP00000360614.4:n.2590-348C>A | |
| ENST00000371560.4:c.2653-348C>A | ENSP00000360615.3:n.2653-348C>A | |
| ENST00000371561.7:c.2716C>A | ENSP00000360616.3:p.Arg906Ser | |
| ENST00000473811.1:n.196C>A | ||
| NM_000832.6:c.2590-348C>A | NP_000823.4:n.2590-348C>A | |
| NM_001185090.1:c.2764-348C>A | NP_001172019.1:n.2764-348C>A | |
| NM_001185091.1:c.2653-348C>A | NP_001172020.1:n.2653-348C>A | |
| NM_007327.3:c.2716C>A | NP_015566.1:p.Arg906Ser | |
| NM_021569.3:c.2605C>A | NP_067544.1:p.Arg869Ser | |
| XM_005266071.2:c.2701-348C>A | XP_005266128.1:n.2701-348C>A | |
| XM_005266072.2:c.2668C>A | XP_005266129.1:p.Arg890Ser | |
| XM_005266073.3:c.2779C>A | XP_005266130.1:p.Arg927Ser | |
| XM_005266071.3:c.2701-348C>A | XP_005266128.1:n.2701-348C>A | |
| XM_005266072.3:c.2668C>A | XP_005266129.1:p.Arg890Ser | |
| XM_005266073.4:c.2779C>A | XP_005266130.1:p.Arg927Ser | |
| NM_007327.4:c.2716C>A MANE Select | NP_015566.1:p.Arg906Ser | |
| NM_000832.7:c.2590-348C>A | NP_000823.4:n.2590-348C>A | |
| NM_001185090.2:c.2764-348C>A | NP_001172019.1:n.2764-348C>A | |
| NM_001185091.2:c.2653-348C>A | NP_001172020.1:n.2653-348C>A | |
| NM_021569.4:c.2605C>A | NP_067544.1:p.Arg869Ser |