Linked Data
dbSNP Id:
rs745971216
ExAC:
2:189963484 A / G
gnomAD v2:
2-189963484-A-G
gnomAD v4:
2-189098758-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189098758A>G , CM000664.2:g.189098758A>G | GRCh38 |
| NC_000002.11:g.189963484A>G , CM000664.1:g.189963484A>G | GRCh37 |
| NC_000002.10:g.189671729A>G | NCBI36 |
| NG_011799.1:g.86122T>C | |
| NG_011799.2:g.86122T>C | |
| NG_011799.3:g.131544T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.371T>C MANE Select | ENSP00000364000.3:p.Val124Ala | |
| ENST00000649966.1:c.233T>C | ENSP00000496785.1:p.Val78Ala | |
| ENST00000374866.7:c.371T>C | ENSP00000364000.3:p.Val124Ala | |
| ENST00000618828.1:c.-260T>C | ENSP00000482184.1:n.-260T>C | |
| NM_000393.3:c.371T>C | NP_000384.2:p.Val124Ala | |
| XM_011510573.1:c.233T>C | XP_011508875.1:p.Val78Ala | |
| NM_000393.4:c.371T>C | NP_000384.2:p.Val124Ala | |
| XM_011510573.3:c.233T>C | XP_011508875.1:p.Val78Ala | |
| NM_000393.5:c.371T>C MANE Select | NP_000384.2:p.Val124Ala |