Linked Data
ClinVar Variation Id:
2917767
ClinVar RCV Id:
RCV003737852
dbSNP Id:
rs372508531
ExAC:
9:77416900 C / T
gnomAD v2:
9-77416900-C-T
gnomAD v3:
9-74801984-C-T
gnomAD v4:
9-74801984-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.74801984C>T , CM000671.2:g.74801984C>T | GRCh38 |
| NC_000009.11:g.77416900C>T , CM000671.1:g.77416900C>T | GRCh37 |
| NC_000009.10:g.76606720C>T | NCBI36 |
| NG_017036.1:g.91111G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360774.6:c.1923G>A MANE Select | ENSP00000354006.1:p.Ala641= | |
| ENST00000360774.5:c.1923G>A | ENSP00000354006.1:p.Ala641= | |
| ENST00000361255.7:c.1908G>A | ENSP00000354962.3:p.Ala636= | |
| ENST00000449912.6:c.1908G>A | ENSP00000396672.2:p.Ala636= | |
| NM_001177310.1:c.1908G>A | NP_001170781.1:p.Ala636= | |
| NM_001177311.1:c.1908G>A | NP_001170782.1:p.Ala636= | |
| NM_017662.4:c.1923G>A | NP_060132.3:p.Ala641= | |
| XM_011518244.1:c.1923G>A | XP_011516546.1:p.Ala641= | |
| XM_011518245.1:c.1830G>A | XP_011516547.1:p.Ala610= | |
| XM_011518246.1:c.1923G>A | XP_011516548.1:p.Ala641= | |
| XM_011518247.1:c.1923G>A | XP_011516549.1:p.Ala641= | |
| XM_011518248.1:c.1782G>A | XP_011516550.1:p.Ala594= | |
| XM_011518249.1:c.1689G>A | XP_011516551.1:p.Ala563= | |
| XM_011518250.1:c.1923G>A | XP_011516552.1:p.Ala641= | |
| XM_011518251.1:c.1194G>A | XP_011516553.1:p.Ala398= | |
| XM_011518252.1:c.1923G>A | XP_011516554.1:p.Ala641= | |
| XM_011518253.1:c.-141G>A | XP_011516555.1:n.-141G>A | |
| XM_011518254.1:c.1923G>A | XP_011516556.1:p.Ala641= | |
| XM_011518255.1:c.1923G>A | XP_011516557.1:p.Ala641= | |
| XR_929716.1:n.2161G>A | ||
| XR_929717.1:n.2161G>A | ||
| XR_929718.1:n.2161G>A | ||
| XM_011518251.2:c.1194G>A | XP_011516553.1:p.Ala398= | |
| XM_011518252.2:c.1923G>A | XP_011516554.1:p.Ala641= | |
| XM_011518255.2:c.1923G>A | XP_011516557.1:p.Ala641= | |
| XM_017014287.1:c.1689G>A | XP_016869776.1:p.Ala563= | |
| XM_017014288.1:c.1689G>A | XP_016869777.1:p.Ala563= | |
| XM_017014289.1:c.1923G>A | XP_016869778.1:p.Ala641= | |
| XR_001746185.1:n.2161G>A | ||
| XR_929717.2:n.2161G>A | ||
| NM_017662.5:c.1923G>A MANE Select | NP_060132.3:p.Ala641= | |
| NM_001177310.2:c.1908G>A | NP_001170781.1:p.Ala636= | |
| NM_001177311.2:c.1908G>A | NP_001170782.1:p.Ala636= |