Linked Data
ClinVar Variation Id:
2872217
ClinVar RCV Id:
RCV003705934
dbSNP Id:
rs755302521
ExAC:
2:55894129 T / C
gnomAD v2:
2-55894129-T-C
gnomAD v3:
2-55666994-T-C
gnomAD v4:
2-55666994-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55666994T>C , CM000664.2:g.55666994T>C | GRCh38 |
| NC_000002.11:g.55894129T>C , CM000664.1:g.55894129T>C | GRCh37 |
| NC_000002.10:g.55747633T>C | NCBI36 |
| NG_033012.1:g.31917A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.1173A>G MANE Select | ENSP00000400646.2:p.Thr391= | |
| ENST00000260604.8:c.*728A>G | ENSP00000260604.4:n.*728A>G | |
| ENST00000415374.5:c.1173A>G | ENSP00000393953.1:p.Thr391= | |
| ENST00000415489.1:c.247A>G | ||
| ENST00000447944.6:c.1173A>G | ENSP00000400646.2:p.Thr391= | |
| NM_033109.4:c.1173A>G | NP_149100.2:p.Thr391= | |
| XM_005264629.1:c.933A>G | XP_005264686.1:p.Thr311= | |
| XM_011533142.1:c.1173A>G | XP_011531444.1:p.Thr391= | |
| XM_005264629.2:c.933A>G | XP_005264686.1:p.Thr311= | |
| XM_017005172.1:c.933A>G | XP_016860661.1:p.Thr311= | |
| XR_001739010.1:n.1203A>G | ||
| NM_033109.5:c.1173A>G MANE Select | NP_149100.2:p.Thr391= |