Linked Data
ClinVar Variation Id:
1166386
ClinVar RCV Id:
RCV001514541
dbSNP Id:
rs755487114
ExAC:
X:85218858 C / T
gnomAD v2:
X-85218858-C-T
gnomAD v3:
X-85963853-C-T
gnomAD v4:
X-85963853-C-T
COSMIC:
COSM4589562
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.85963853C>T , CM000685.2:g.85963853C>T | GRCh38 |
| NC_000023.10:g.85218858C>T , CM000685.1:g.85218858C>T | GRCh37 |
| NC_000023.9:g.85105514C>T | NCBI36 |
| NG_009874.2:g.88710G>A , LRG_699:g.88710G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357749.7:c.514G>A MANE Select | ENSP00000350386.2:p.Ala172Thr | |
| ENST00000357749.6:c.514G>A | ENSP00000350386.2:p.Ala172Thr | |
| ENST00000467744.2:n.126+63638G>A | ||
| NM_000390.2:c.514G>A , LRG_699t1:c.514G>A | NP_000381.1:p.Ala172Thr | |
| XM_006724615.2:c.451G>A | XP_006724678.1:p.Ala151Thr | |
| XM_011530839.1:c.70G>A | XP_011529141.1:p.Ala24Thr | |
| NM_000390.3:c.514G>A | NP_000381.1:p.Ala172Thr | |
| NM_001320959.1:c.70G>A | NP_001307888.1:p.Ala24Thr | |
| NM_001362517.1:c.70G>A | NP_001349446.1:p.Ala24Thr | |
| NM_001362518.1:c.70G>A | NP_001349447.1:p.Ala24Thr | |
| NM_001362519.1:c.70G>A | NP_001349448.1:p.Ala24Thr | |
| XM_017029242.2:c.514G>A | XP_016884731.1:p.Ala172Thr | |
| XM_017029246.1:c.70G>A | XP_016884735.1:p.Ala24Thr | |
| XM_024452331.1:c.70G>A | XP_024308099.1:p.Ala24Thr | |
| NM_000390.4:c.514G>A MANE Select | NP_000381.1:p.Ala172Thr | |
| NM_001362518.2:c.70G>A | NP_001349447.1:p.Ala24Thr |