Linked Data
ClinVar Variation Id:
2974927
ClinVar RCV Id:
RCV003838549
dbSNP Id:
rs369072138
gnomAD v2:
2-31754514-C-G
gnomAD v3:
2-31529444-C-G
gnomAD v4:
2-31529444-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31529444C>G , CM000664.2:g.31529444C>G | GRCh38 |
| NC_000002.11:g.31754514C>G , CM000664.1:g.31754514C>G | GRCh37 |
| NC_000002.10:g.31608018C>G | NCBI36 |
| NG_008365.1:g.56528G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.561G>C MANE Select | ENSP00000477587.1:p.Thr187= | |
| ENST00000622030.1:c.561G>C | ENSP00000477587.1:p.Thr187= | |
| NM_000348.3:c.561G>C | NP_000339.2:p.Thr187= | |
| XM_011533069.1:c.339G>C | XP_011531371.1:p.Thr113= | |
| XM_011533070.1:c.306G>C | XP_011531372.1:p.Thr102= | |
| XM_011533071.1:c.306G>C | XP_011531373.1:p.Thr102= | |
| XM_011533072.1:c.306G>C | XP_011531374.1:p.Thr102= | |
| XM_011533069.2:c.339G>C | XP_011531371.1:p.Thr113= | |
| XM_011533072.2:c.306G>C | XP_011531374.1:p.Thr102= | |
| NM_000348.4:c.561G>C MANE Select | NP_000339.2:p.Thr187= |