Linked Data
ClinVar Variation Id:
137212
ClinVar RCV Id:
RCV000124893
dbSNP Id:
rs1874198
ExAC:
3:27763427 G / C
gnomAD v2:
3-27763427-G-C
gnomAD v3:
3-27721936-G-C
gnomAD v4:
3-27721936-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.27721936G>C , CM000665.2:g.27721936G>C | GRCh38 |
| NC_000003.11:g.27763427G>C , CM000665.1:g.27763427G>C | GRCh37 |
| NC_000003.10:g.27738431G>C | NCBI36 |
| NG_042182.1:g.5780C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449599.4:c.359C>G MANE Select | ENSP00000388620.1:p.Ala120Gly | |
| ENST00000295743.8:c.359C>G | ENSP00000295743.4:p.Ala120Gly | |
| ENST00000449599.3:c.359C>G | ENSP00000388620.1:p.Ala120Gly | |
| ENST00000461503.2:c.-5+494C>G | ENSP00000487112.1:n.-5+494C>G | |
| NM_001278182.1:c.359C>G | NP_001265111.1:p.Ala120Gly | |
| NM_001278183.1:c.-5+494C>G | NP_001265112.1:n.-5+494C>G | |
| NM_005442.3:c.359C>G | NP_005433.2:p.Ala120Gly | |
| XM_005265510.2:c.359C>G | XP_005265567.1:p.Ala120Gly | |
| XM_005265510.4:c.359C>G | XP_005265567.1:p.Ala120Gly | |
| NM_001278182.2:c.359C>G MANE Select | NP_001265111.1:p.Ala120Gly | |
| NM_005442.4:c.359C>G | NP_005433.2:p.Ala120Gly | |
| NM_001278183.2:c.-5+494C>G | NP_001265112.1:n.-5+494C>G |