Linked Data
ClinVar Variation Id:
2785573
ClinVar RCV Id:
RCV003664443
dbSNP Id:
rs201209267
ExAC:
19:15349917 G / C
gnomAD v2:
19-15349917-G-C
gnomAD v3:
19-15239106-G-C
gnomAD v4:
19-15239106-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15239106G>C , CM000681.2:g.15239106G>C | GRCh38 |
| NC_000019.9:g.15349917G>C , CM000681.1:g.15349917G>C | GRCh37 |
| NC_000019.8:g.15210917G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679869.1:c.3735C>G MANE Select | ENSP00000506350.1:p.Ala1245= | |
| ENST00000263377.6:c.3735C>G | ENSP00000263377.1:p.Ala1245= | |
| NM_058243.2:c.3735C>G | NP_490597.1:p.Ala1245= | |
| XM_011527854.1:c.3735C>G | XP_011526156.1:p.Ala1245= | |
| XM_011527854.2:c.3735C>G | XP_011526156.1:p.Ala1245= | |
| NM_001379291.1:c.3735C>G MANE Select | NP_001366220.1:p.Ala1245= | |
| NM_058243.3:c.3735C>G | NP_490597.1:p.Ala1245= |