Linked Data
ClinVar Variation Id:
2181984
ClinVar RCV Id:
RCV002606422
dbSNP Id:
rs747763003
ExAC:
2:61144109 G / A
gnomAD v2:
2-61144109-G-A
gnomAD v3:
2-60916974-G-A
gnomAD v4:
2-60916974-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.60916974G>A , CM000664.2:g.60916974G>A | GRCh38 |
| NC_000002.11:g.61144109G>A , CM000664.1:g.61144109G>A | GRCh37 |
| NC_000002.10:g.60997613G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699191.1:c.492G>A | ENSP00000514191.1:p.Thr164= | |
| ENST00000699192.1:c.492G>A | ENSP00000514192.1:p.Thr164= | |
| ENST00000699193.1:c.*91G>A | ENSP00000514193.1:n.*91G>A | |
| ENST00000699194.1:n.443G>A | ||
| ENST00000394479.4:c.492G>A MANE Select | ENSP00000377989.4:p.Thr164= | |
| ENST00000295025.12:c.492G>A | ENSP00000295025.7:p.Thr164= | |
| ENST00000394479.3:c.492G>A | ENSP00000377989.3:p.Thr164= | |
| NM_001291746.1:c.492G>A | NP_001278675.1:p.Thr164= | |
| NM_002908.3:c.492G>A | NP_002899.1:p.Thr164= | |
| XM_011533010.1:c.198G>A | XP_011531312.1:p.Thr66= | |
| XM_011533010.3:c.198G>A | XP_011531312.1:p.Thr66= | |
| XM_017004627.2:c.492G>A | XP_016860116.1:p.Thr164= | |
| NM_001291746.2:c.492G>A MANE Select | NP_001278675.1:p.Thr164= | |
| NM_002908.4:c.492G>A | NP_002899.1:p.Thr164= |