Linked Data
ClinVar Variation Id:
427125
ClinVar RCV Id:
RCV000489241
dbSNP Id:
rs774425075
ExAC:
2:55907990 C / T
gnomAD v2:
2-55907990-C-T
gnomAD v3:
2-55680855-C-T
gnomAD v4:
2-55680855-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55680855C>T , CM000664.2:g.55680855C>T | GRCh38 |
| NC_000002.11:g.55907990C>T , CM000664.1:g.55907990C>T | GRCh37 |
| NC_000002.10:g.55761494C>T | NCBI36 |
| NG_033012.1:g.18056G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000447944.7:c.517G>A MANE Select | ENSP00000400646.2:p.Ala173Thr | |
| ENST00000260604.8:c.517G>A | ENSP00000260604.4:p.Gly173Ser | |
| ENST00000415374.5:c.517G>A | ENSP00000393953.1:p.Ala173Thr | |
| ENST00000429805.1:c.*165G>A | ENSP00000411994.1:n.*165G>A | |
| ENST00000447944.6:c.517G>A | ENSP00000400646.2:p.Ala173Thr | |
| NM_033109.4:c.517G>A | NP_149100.2:p.Ala173Thr | |
| XM_005264629.1:c.277G>A | XP_005264686.1:p.Ala93Thr | |
| XM_011533142.1:c.517G>A | XP_011531444.1:p.Ala173Thr | |
| XM_005264629.2:c.277G>A | XP_005264686.1:p.Ala93Thr | |
| XM_017005172.1:c.277G>A | XP_016860661.1:p.Ala93Thr | |
| XR_001739010.1:n.547G>A | ||
| NM_033109.5:c.517G>A MANE Select | NP_149100.2:p.Ala173Thr |