Linked Data
ClinVar Variation Id:
23
dbSNP Id:
rs267607175
ExAC:
2:20133230 C / T
gnomAD v2:
2-20133230-C-T
gnomAD v3:
2-19933469-C-T
gnomAD v4:
2-19933469-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19933469C>T , CM000664.2:g.19933469C>T | GRCh38 |
| NC_000002.11:g.20133230C>T , CM000664.1:g.20133230C>T | GRCh37 |
| NC_000002.10:g.19996711C>T | NCBI36 |
| NG_021212.1:g.61655G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281405.9:c.2590G>A MANE Select | ENSP00000281405.5:p.Ala864Thr | |
| ENST00000345530.8:c.2623G>A MANE Plus Clinical | ENSP00000314444.5:p.Ala875Thr | |
| ENST00000281405.8:c.2590G>A | ENSP00000281405.4:p.Ala864Thr | |
| ENST00000345530.7:c.2623G>A | ENSP00000314444.5:p.Ala875Thr | |
| ENST00000414212.5:c.*5G>A | ENSP00000390802.1:n.*5G>A | |
| ENST00000445063.5:c.2023+2002G>A | ||
| NM_001006657.1:c.2623G>A | NP_001006658.1:p.Ala875Thr | |
| NM_020779.3:c.2590G>A | NP_065830.2:p.Ala864Thr | |
| XM_011533007.1:c.1318G>A | XP_011531309.1:p.Ala440Thr | |
| XR_426989.2:n.2623G>A | ||
| XM_011533007.2:c.1318G>A | XP_011531309.1:p.Ala440Thr | |
| XR_001738862.1:n.2567G>A | ||
| XR_426989.3:n.2623G>A | ||
| NM_001006657.2:c.2623G>A MANE Plus Clinical | NP_001006658.1:p.Ala875Thr | |
| NM_020779.4:c.2590G>A MANE Select | NP_065830.2:p.Ala864Thr |