Linked Data
ClinVar Variation Id:
435153
dbSNP Id:
rs145613634
ExAC:
9:35077006 G / T
gnomAD v2:
9-35077006-G-T
gnomAD v3:
9-35077009-G-T
gnomAD v4:
9-35077009-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35077009G>T , CM000671.2:g.35077009G>T | GRCh38 |
| NC_000009.11:g.35077006G>T , CM000671.1:g.35077006G>T | GRCh37 |
| NC_000009.10:g.35067006G>T | NCBI36 |
| NG_007312.1:g.8008C>A , LRG_499:g.8008C>A | |
| NG_007887.1:g.734C>A , LRG_657:g.734C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448890.2:c.739C>A | ENSP00000409607.2:p.Gln247Lys | |
| ENST00000461149.2:n.1956C>A | ||
| ENST00000696700.1:n.1991C>A | ||
| ENST00000696701.1:n.843C>A | ||
| ENST00000696702.1:c.*215C>A | ENSP00000512821.1:n.*215C>A | |
| ENST00000696703.1:c.*215C>A | ENSP00000512822.1:n.*215C>A | |
| ENST00000696706.1:n.802C>A | ||
| ENST00000696707.1:n.956C>A | ||
| ENST00000696708.1:c.*123-139C>A | ENSP00000512825.1:n.*123-139C>A | |
| ENST00000696709.1:n.1141C>A | ||
| ENST00000696710.1:c.739C>A | ENSP00000512826.1:p.Gln247Lys | |
| ENST00000696711.1:n.2088C>A | ||
| ENST00000696712.1:n.826C>A | ||
| ENST00000696713.1:c.739C>A | ENSP00000512827.1:p.Gln247Lys | |
| ENST00000696714.1:n.1215C>A | ||
| ENST00000696715.1:c.739C>A | ENSP00000512828.1:p.Gln247Lys | |
| ENST00000378643.8:c.739C>A MANE Select | ENSP00000367910.4:p.Gln247Lys | |
| ENST00000378643.7:c.739C>A | ENSP00000367910.3:p.Gln247Lys | |
| ENST00000425676.5:c.*215C>A | ENSP00000412793.1:n.*215C>A | |
| NM_004629.1:c.739C>A , LRG_499t1:c.739C>A | NP_004620.1:p.Gln247Lys | |
| NM_004629.2:c.739C>A MANE Select | NP_004620.1:p.Gln247Lys |