Linked Data
ClinVar Variation Id:
137543
ClinVar RCV Id:
RCV000232104
RCV000153351
RCV000852705
RCV001117320
RCV002477330
RCV000618938
RCV003311683
dbSNP Id:
rs142735148
ExAC:
15:73615097 T / C
gnomAD v2:
15-73615097-T-C
gnomAD v3:
15-73322756-T-C
gnomAD v4:
15-73322756-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322756T>C , CM000677.2:g.73322756T>C | GRCh38 |
| NC_000015.9:g.73615097T>C , CM000677.1:g.73615097T>C | GRCh37 |
| NC_000015.8:g.71402150T>C | NCBI36 |
| NG_009063.1:g.51509A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3337A>G MANE Select | ENSP00000261917.3:p.Met1113Val | |
| ENST00000261917.3:c.3337A>G | ENSP00000261917.3:p.Met1113Val | |
| NM_005477.2:c.3337A>G | NP_005468.1:p.Met1113Val | |
| XM_011521148.1:c.2119A>G | XP_011519450.1:p.Met707Val | |
| XM_011521148.2:c.2119A>G | XP_011519450.1:p.Met707Val | |
| NM_005477.3:c.3337A>G MANE Select | NP_005468.1:p.Met1113Val |