Linked Data
ClinVar Variation Id:
206462
ClinVar RCV Id:
RCV000188510
RCV000768054
RCV000633561
RCV001121414
RCV001721213
RCV002317140
RCV003985742
dbSNP Id:
rs200257554
ExAC:
15:89867387 C / T
gnomAD v2:
15-89867387-C-T
gnomAD v3:
15-89324156-C-T
gnomAD v4:
15-89324156-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89324156C>T , CM000677.2:g.89324156C>T | GRCh38 |
| NC_000015.9:g.89867387C>T , CM000677.1:g.89867387C>T | GRCh37 |
| NC_000015.8:g.87668391C>T | NCBI36 |
| NG_008218.1:g.15640G>A | |
| NG_008218.2:g.15640G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2021G>A | ENSP00000516154.1:p.Gly674Asp | |
| ENST00000268124.11:c.2021G>A MANE Select | ENSP00000268124.5:p.Gly674Asp | |
| ENST00000530292.3:c.1622G>A | ENSP00000432885.2:p.Gly541Asp | |
| ENST00000635986.2:c.2021G>A | ENSP00000490653.2:p.Gly674Asp | |
| ENST00000636774.1:c.*588G>A | ENSP00000489799.1:n.*588G>A | |
| ENST00000637238.1:c.718G>A | ENSP00000490756.1:n.718G>A | |
| ENST00000637264.1:c.1093G>A | ||
| ENST00000666746.1:c.1598G>A | ||
| ENST00000670281.1:c.341G>A | ENSP00000499709.1:p.Gly114Asp | |
| ENST00000672071.1:n.2219G>A | ||
| ENST00000672923.2:n.2124G>A | ||
| ENST00000268124.9:c.2021G>A | ENSP00000268124.5:p.Gly674Asp | |
| ENST00000442287.6:c.2021G>A | ENSP00000399851.2:p.Gly674Asp | |
| ENST00000526314.2:c.403G>A | ||
| ENST00000526398.1:c.170G>A | ||
| ENST00000526573.1:n.107G>A | ||
| ENST00000532584.5:n.223G>A | ||
| ENST00000533857.1:n.136G>A | ||
| ENST00000631044.2:c.*1404G>A | ENSP00000486730.1:n.*1404G>A | |
| NM_001126131.1:c.2021G>A | NP_001119603.1:p.Gly674Asp | |
| NM_002693.2:c.2021G>A | NP_002684.1:p.Gly674Asp | |
| NM_001126131.2:c.2021G>A | NP_001119603.1:p.Gly674Asp | |
| NM_002693.3:c.2021G>A MANE Select | NP_002684.1:p.Gly674Asp |