Linked Data
ClinVar Variation Id:
740
ClinVar RCV Id:
RCV000000776
dbSNP Id:
rs121918140
ExAC:
6:150715362 G / A
gnomAD v2:
6-150715362-G-A
gnomAD v3:
6-150394226-G-A
gnomAD v4:
6-150394226-G-A
PubMed:
PMID:18765512
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.150394226G>A , CM000668.2:g.150394226G>A | GRCh38 |
| NC_000006.11:g.150715362G>A , CM000668.1:g.150715362G>A | GRCh37 |
| NC_000006.10:g.150757055G>A | NCBI36 |
| NG_016007.1:g.30335G>A | |
| NG_016007.2:g.30335G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344419.8:c.658G>A MANE Select | ENSP00000343763.4:p.Ala220Thr | |
| ENST00000229447.9:c.658G>A | ENSP00000229447.5:p.Ala220Thr | |
| ENST00000344419.7:c.658G>A | ENSP00000343763.3:p.Ala220Thr | |
| ENST00000367335.7:c.658G>A | ENSP00000356304.3:p.Ala220Thr | |
| ENST00000392255.7:c.658G>A | ENSP00000376084.3:p.Ala220Thr | |
| ENST00000392256.6:c.658G>A | ENSP00000376085.2:p.Ala220Thr | |
| ENST00000422583.2:c.467G>A | ENSP00000397342.2:n.467G>A | |
| ENST00000425615.3:c.493G>A | ENSP00000390081.3:p.Ala165Thr | |
| ENST00000500320.7:c.658G>A | ENSP00000441276.1:p.Ala220Thr | |
| NM_001164694.1:c.658G>A | NP_001158166.1:p.Ala220Thr | |
| NM_001164695.1:c.658G>A | NP_001158167.1:p.Ala220Thr | |
| NM_203395.2:c.658G>A | NP_981932.1:p.Ala220Thr | |
| XM_006715478.2:c.658G>A | XP_006715541.1:p.Ala220Thr | |
| XM_006715479.2:c.493G>A | XP_006715542.1:p.Ala165Thr | |
| XR_245516.3:n.821G>A | ||
| NM_001318495.1:c.412G>A | NP_001305424.1:p.Ala138Thr | |
| NR_134655.1:n.798G>A | ||
| XM_006715478.3:c.658G>A | XP_006715541.1:p.Ala220Thr | |
| XM_006715479.3:c.493G>A | XP_006715542.1:p.Ala165Thr | |
| NM_001164694.2:c.658G>A | NP_001158166.1:p.Ala220Thr | |
| NM_001164695.2:c.658G>A | NP_001158167.1:p.Ala220Thr | |
| NM_001318495.2:c.412G>A | NP_001305424.1:p.Ala138Thr | |
| NM_203395.3:c.658G>A MANE Select | NP_981932.1:p.Ala220Thr | |
| NR_134655.2:n.678G>A |