Linked Data
ClinVar Variation Id:
871
ClinVar RCV Id:
RCV000000919
dbSNP Id:
rs121918191
gnomAD v4:
9-94606939-A-G
PubMed:
PMID:12126934
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94606939A>G , CM000671.2:g.94606939A>G | GRCh38 |
| NC_000009.11:g.97369221A>G , CM000671.1:g.97369221A>G | GRCh37 |
| NC_000009.10:g.96409042A>G | NCBI36 |
| NG_008174.1:g.38311T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682520.1:c.741T>C | ENSP00000507547.1:n.741T>C | |
| ENST00000375326.9:c.581T>C MANE Select | ENSP00000364475.5:p.Phe194Ser | |
| ENST00000648117.1:c.386T>C | ENSP00000498145.1:p.Phe129Ser | |
| ENST00000375326.8:c.581T>C | ENSP00000364475.4:p.Phe194Ser | |
| ENST00000414122.1:c.329T>C | ENSP00000411619.1:p.Phe110Ser | |
| ENST00000415431.5:c.581T>C | ENSP00000408025.1:p.Phe194Ser | |
| NM_000507.3:c.581T>C | NP_000498.2:p.Phe194Ser | |
| NM_001127628.1:c.581T>C | NP_001121100.1:p.Phe194Ser | |
| XM_006717005.2:c.335T>C | XP_006717068.1:p.Phe112Ser | |
| XM_006717005.4:c.335T>C | XP_006717068.1:p.Phe112Ser | |
| NM_000507.4:c.581T>C MANE Select | NP_000498.2:p.Phe194Ser | |
| NM_001127628.2:c.581T>C | NP_001121100.1:p.Phe194Ser |