Linked Data
ClinVar Variation Id:
1098605
ClinVar RCV Id:
RCV001420543
dbSNP Id:
rs370829581
ExAC:
19:15290903 T / C
gnomAD v2:
19-15290903-T-C
gnomAD v3:
19-15180092-T-C
gnomAD v4:
19-15180092-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15180092T>C , CM000681.2:g.15180092T>C | GRCh38 |
| NC_000019.9:g.15290903T>C , CM000681.1:g.15290903T>C | GRCh37 |
| NC_000019.8:g.15151903T>C | NCBI36 |
| NG_009819.1:g.25890A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.3307A>G MANE Select | ENSP00000263388.1:p.Met1103Val | |
| ENST00000263388.6:c.3307A>G | ENSP00000263388.1:p.Met1103Val | |
| ENST00000601011.1:c.3148A>G | ENSP00000473138.1:p.Met1050Val | |
| NM_000435.2:c.3307A>G | NP_000426.2:p.Met1103Val | |
| XM_005259924.3:c.3151A>G | XP_005259981.1:p.Met1051Val | |
| XM_005259924.4:c.3151A>G | XP_005259981.1:p.Met1051Val | |
| NM_000435.3:c.3307A>G MANE Select | NP_000426.2:p.Met1103Val |