Linked Data
ClinVar Variation Id:
870165
ClinVar RCV Id:
RCV001089700
dbSNP Id:
rs778072039
ExAC:
X:99662047 C / T
gnomAD v2:
X-99662047-C-T
gnomAD v4:
X-100407049-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100407049C>T , CM000685.2:g.100407049C>T | GRCh38 |
| NC_000023.10:g.99662047C>T , CM000685.1:g.99662047C>T | GRCh37 |
| NC_000023.9:g.99548703C>T | NCBI36 |
| NG_021319.1:g.8225G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255531.8:c.1549G>A | ENSP00000255531.7:p.Ala517Thr | |
| ENST00000373034.8:c.1549G>A MANE Select | ENSP00000362125.4:p.Ala517Thr | |
| ENST00000420881.6:c.1549G>A | ENSP00000400327.2:p.Ala517Thr | |
| NM_001105243.1:c.1549G>A | NP_001098713.1:p.Ala517Thr | |
| NM_001184880.1:c.1549G>A | NP_001171809.1:p.Ala517Thr | |
| NM_020766.2:c.1549G>A | NP_065817.2:p.Ala517Thr | |
| XM_011530997.1:c.1549G>A | XP_011529299.1:p.Ala517Thr | |
| XM_011530997.2:c.1549G>A | XP_011529299.1:p.Ala517Thr | |
| NM_001105243.2:c.1549G>A | NP_001098713.1:p.Ala517Thr | |
| NM_001184880.2:c.1549G>A MANE Select | NP_001171809.1:p.Ala517Thr | |
| NM_020766.3:c.1549G>A | NP_065817.2:p.Ala517Thr |