Linked Data
ClinVar Variation Id:
2509861
ClinVar RCV Id:
RCV003251194
dbSNP Id:
rs752226641
ExAC:
3:33038692 T / G
gnomAD v2:
3-33038692-T-G
gnomAD v3:
3-32997200-T-G
gnomAD v4:
3-32997200-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32997200T>G , CM000665.2:g.32997200T>G | GRCh38 |
| NC_000003.11:g.33038692T>G , CM000665.1:g.33038692T>G | GRCh37 |
| NC_000003.10:g.33013696T>G | NCBI36 |
| NG_009005.1:g.105003A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1879A>C MANE Select | ENSP00000306920.4:p.Ser627Arg | |
| ENST00000307363.9:c.1879A>C | ENSP00000306920.4:p.Ser627Arg | |
| ENST00000307377.12:c.1486A>C | ENSP00000305920.8:p.Ser496Arg | |
| ENST00000399402.7:c.1789A>C | ENSP00000382333.2:p.Ser597Arg | |
| NM_000404.2:c.1879A>C | NP_000395.2:p.Ser627Arg | |
| NM_000404.3:c.1879A>C | NP_000395.2:p.Ser627Arg | |
| NM_001079811.1:c.1789A>C | NP_001073279.1:p.Ser597Arg | |
| NM_001079811.2:c.1789A>C | NP_001073279.1:p.Ser597Arg | |
| NM_001135602.1:c.1486A>C | NP_001129074.1:p.Ser496Arg | |
| NM_001135602.2:c.1486A>C | NP_001129074.1:p.Ser496Arg | |
| NM_001317040.1:c.2023A>C | NP_001303969.1:p.Ser675Arg | |
| NM_000404.4:c.1879A>C MANE Select | NP_000395.3:p.Ser627Arg | |
| NM_001079811.3:c.1789A>C | NP_001073279.2:p.Ser597Arg | |
| NM_001135602.3:c.1486A>C | NP_001129074.2:p.Ser496Arg | |
| NM_001317040.2:c.2023A>C | NP_001303969.2:p.Ser675Arg | |
| NM_001393580.1:c.1734+16856A>C | NP_001380509.1:n.1734+16856A>C |