Linked Data
ClinVar Variation Id:
120266
ClinVar RCV Id:
RCV000106347
dbSNP Id:
rs281865438
gnomAD v4:
12-102912795-A-G
ERepo:
CA267639/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102912795A>G , CM000674.2:g.102912795A>G | GRCh38 |
| NC_000012.11:g.103306573A>G , CM000674.1:g.103306573A>G | GRCh37 |
| NC_000012.10:g.101830703A>G | NCBI36 |
| NG_008690.1:g.9808T>C | |
| NG_008690.2:g.50616T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.164T>C MANE Select | ENSP00000448059.1:p.Phe55Ser | |
| ENST00000307000.7:c.149T>C | ENSP00000303500.2:p.Phe50Ser | |
| ENST00000546844.1:c.164T>C | ENSP00000446658.1:p.Phe55Ser | |
| ENST00000548677.2:n.251T>C | ||
| ENST00000548928.1:n.86T>C | ||
| ENST00000549111.5:n.260T>C | ||
| ENST00000550978.6:c.148T>C | ||
| ENST00000551337.5:c.164T>C | ENSP00000447620.1:p.Phe55Ser | |
| ENST00000551988.5:n.253T>C | ||
| ENST00000553106.5:c.164T>C | ENSP00000448059.1:p.Phe55Ser | |
| ENST00000635500.1:n.132T>C | ||
| NM_000277.1:c.164T>C | NP_000268.1:p.Phe55Ser | |
| XM_011538422.1:c.164T>C | XP_011536724.1:p.Phe55Ser | |
| NM_000277.2:c.164T>C | NP_000268.1:p.Phe55Ser | |
| NM_001354304.1:c.164T>C | NP_001341233.1:p.Phe55Ser | |
| XM_017019370.2:c.164T>C | XP_016874859.1:p.Phe55Ser | |
| NM_000277.3:c.164T>C MANE Select | NP_000268.1:p.Phe55Ser | |
| NM_001354304.2:c.164T>C | NP_001341233.1:p.Phe55Ser |