Linked Data
ClinVar Variation Id:
1564660
ClinVar RCV Id:
RCV002217989
dbSNP Id:
rs1450628576
gnomAD v2:
3-167507063-T-C
gnomAD v3:
3-167789275-T-C
gnomAD v4:
3-167789275-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.167789275T>C , CM000665.2:g.167789275T>C | GRCh38 |
| NC_000003.11:g.167507063T>C , CM000665.1:g.167507063T>C | GRCh37 |
| NC_000003.10:g.168989757T>C | NCBI36 |
| NG_008217.1:g.58632T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446050.7:c.147T>C MANE Select | ENSP00000397373.2:p.Ser49= | |
| ENST00000295777.9:c.147T>C | ENSP00000295777.5:p.Ser49= | |
| ENST00000446050.6:c.147T>C | ENSP00000397373.2:p.Ser49= | |
| ENST00000472747.2:c.147T>C | ENSP00000420561.2:p.Ser49= | |
| ENST00000472941.5:c.147T>C | ENSP00000420133.1:p.Ser49= | |
| NM_001122752.1:c.147T>C | NP_001116224.1:p.Ser49= | |
| NM_005025.4:c.147T>C | NP_005016.1:p.Ser49= | |
| XM_017006618.2:c.147T>C | XP_016862107.1:p.Ser49= | |
| NM_001122752.2:c.147T>C MANE Select | NP_001116224.1:p.Ser49= | |
| NM_005025.5:c.147T>C | NP_005016.1:p.Ser49= |