Linked Data
ClinVar Variation Id:
416979
ClinVar RCV Id:
RCV000713759
dbSNP Id:
rs1889586
ExAC:
1:43881759 G / A
gnomAD v2:
1-43881759-G-A
gnomAD v3:
1-43416088-G-A
gnomAD v4:
1-43416088-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43416088G>A , CM000663.2:g.43416088G>A | GRCh38 |
| NC_000001.10:g.43881759G>A , CM000663.1:g.43881759G>A | GRCh37 |
| NC_000001.9:g.43654346G>A | NCBI36 |
| NG_029091.1:g.31204G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000562955.2:c.759G>A | ENSP00000457168.1:p.Ser253= | |
| ENST00000634258.3:c.759G>A MANE Select | ENSP00000489255.1:p.Ser253= | |
| ENST00000639852.1:c.408G>A | ENSP00000492385.1:p.Ser136= | |
| ENST00000562955.1:c.759G>A | ENSP00000457168.1:p.Ser253= | |
| ENST00000634258.1:c.759G>A | ENSP00000489255.1:p.Ser253= | |
| NM_015284.3:c.759G>A | NP_056099.3:p.Ser253= | |
| XM_005270686.2:c.822G>A | XP_005270743.1:p.Ser274= | |
| XM_006710501.2:c.759G>A | XP_006710564.1:p.Ser253= | |
| XM_011541103.1:c.876G>A | XP_011539405.1:p.Ser292= | |
| XM_011541104.1:c.705G>A | XP_011539406.1:p.Ser235= | |
| XM_011541105.1:c.702G>A | XP_011539407.1:p.Ser234= | |
| XM_011541106.1:c.702G>A | XP_011539408.1:p.Ser234= | |
| XM_011541107.1:c.303G>A | XP_011539409.1:p.Ser101= | |
| NM_001365999.1:c.759G>A MANE Select | NP_001352928.1:p.Ser253= | |
| XM_005270686.3:c.822G>A | XP_005270743.1:p.Ser274= | |
| XM_011541106.3:c.702G>A | XP_011539408.1:p.Ser234= | |
| XM_011541107.2:c.303G>A | XP_011539409.1:p.Ser101= | |
| XM_017000819.1:c.822G>A | XP_016856308.1:p.Ser274= | |
| XM_017000820.1:c.651G>A | XP_016856309.1:p.Ser217= | |
| XM_017000821.1:c.-567G>A | XP_016856310.1:n.-567G>A | |
| XR_001737075.1:n.905G>A | ||
| XR_001737076.1:n.907G>A | ||
| XR_001737077.1:n.907G>A | ||
| XR_002956151.1:n.905G>A | ||
| NM_015284.4:c.759G>A | NP_056099.3:p.Ser253= |