Linked Data
ClinVar Variation Id:
2479780
ClinVar RCV Id:
RCV003204556
dbSNP Id:
rs1422696182
gnomAD v3:
8-18400244-A-G
gnomAD v4:
8-18400244-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400244A>G , CM000670.2:g.18400244A>G | GRCh38 |
| NC_000008.10:g.18257754A>G , CM000670.1:g.18257754A>G | GRCh37 |
| NC_000008.9:g.18302034A>G | NCBI36 |
| NG_012246.1:g.14000A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286479.4:c.241A>G MANE Select | ENSP00000286479.3:p.Thr81Ala | |
| ENST00000286479.3:c.241A>G | ENSP00000286479.3:p.Thr81Ala | |
| ENST00000520116.1:c.-57-93A>G | ENSP00000428416.1:n.-57-93A>G | |
| NM_000015.2:c.241A>G | NP_000006.2:p.Thr81Ala | |
| XM_011544358.1:c.241A>G | XP_011542660.1:p.Thr81Ala | |
| XM_017012938.1:c.241A>G | XP_016868427.1:p.Thr81Ala | |
| NM_000015.3:c.241A>G MANE Select | NP_000006.2:p.Thr81Ala |