Linked Data
ClinVar Variation Id:
2094626
ClinVar RCV Id:
RCV003010347
dbSNP Id:
rs775847273
ExAC:
3:33063093 T / G
gnomAD v2:
3-33063093-T-G
gnomAD v3:
3-33021601-T-G
gnomAD v4:
3-33021601-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33021601T>G , CM000665.2:g.33021601T>G | GRCh38 |
| NC_000003.11:g.33063093T>G , CM000665.1:g.33063093T>G | GRCh37 |
| NC_000003.10:g.33038097T>G | NCBI36 |
| NG_009005.1:g.80602A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1198A>C MANE Select | ENSP00000306920.4:p.Ser400Arg | |
| ENST00000307363.9:c.1198A>C | ENSP00000306920.4:p.Ser400Arg | |
| ENST00000307377.12:c.805A>C | ENSP00000305920.8:p.Ser269Arg | |
| ENST00000399402.7:c.1108A>C | ENSP00000382333.2:p.Ser370Arg | |
| ENST00000461475.5:n.297A>C | ||
| ENST00000467571.5:n.235A>C | ||
| ENST00000473477.1:n.230A>C | ||
| ENST00000497796.5:n.450A>C | ||
| NM_000404.2:c.1198A>C | NP_000395.2:p.Ser400Arg | |
| NM_000404.3:c.1198A>C | NP_000395.2:p.Ser400Arg | |
| NM_001079811.1:c.1108A>C | NP_001073279.1:p.Ser370Arg | |
| NM_001079811.2:c.1108A>C | NP_001073279.1:p.Ser370Arg | |
| NM_001135602.1:c.805A>C | NP_001129074.1:p.Ser269Arg | |
| NM_001135602.2:c.805A>C | NP_001129074.1:p.Ser269Arg | |
| NM_001317040.1:c.1342A>C | NP_001303969.1:p.Ser448Arg | |
| XR_001740634.1:n.1543-587T>G | ||
| NM_000404.4:c.1198A>C MANE Select | NP_000395.3:p.Ser400Arg | |
| NM_001079811.3:c.1108A>C | NP_001073279.2:p.Ser370Arg | |
| NM_001135602.3:c.805A>C | NP_001129074.2:p.Ser269Arg | |
| NM_001317040.2:c.1342A>C | NP_001303969.2:p.Ser448Arg | |
| NM_001393580.1:c.1198A>C | NP_001380509.1:p.Ser400Arg |