Linked Data
ClinVar Variation Id:
36218
dbSNP Id:
rs193922297
gnomAD v4:
7-44150990-A-G
PubMed:
PMID:9662401
ERepo:
CA213784/MONDO:0015967/086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44150990A>G , CM000669.2:g.44150990A>G | GRCh38 |
| NC_000007.13:g.44190589A>G , CM000669.1:g.44190589A>G | GRCh37 |
| NC_000007.12:g.44157114A>G | NCBI36 |
| NG_008847.1:g.43434T>C | |
| NG_008847.2:g.52181T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*447T>C | ENSP00000379142.4:n.*447T>C | |
| ENST00000616242.5:c.449T>C | ENSP00000482149.2:p.Phe150Ser | |
| ENST00000682635.1:n.935T>C | ||
| ENST00000345378.7:c.452T>C | ENSP00000223366.2:p.Phe151Ser | |
| ENST00000403799.8:c.449T>C MANE Select | ENSP00000384247.3:p.Phe150Ser | |
| ENST00000671824.1:c.449T>C | ENSP00000500264.1:p.Phe150Ser | |
| ENST00000673284.1:c.449T>C | ENSP00000499852.1:p.Phe150Ser | |
| ENST00000345378.6:c.452T>C | ENSP00000223366.2:p.Phe151Ser | |
| ENST00000395796.7:c.446T>C | ENSP00000379142.3:p.Phe149Ser | |
| ENST00000403799.7:c.449T>C | ENSP00000384247.3:p.Phe150Ser | |
| ENST00000437084.1:c.398T>C | ENSP00000402840.1:p.Phe133Ser | |
| ENST00000616242.4:c.446T>C | ENSP00000482149.1:p.Phe149Ser | |
| NM_000162.3:c.449T>C | NP_000153.1:p.Phe150Ser | |
| NM_033507.1:c.452T>C | NP_277042.1:p.Phe151Ser | |
| NM_033508.1:c.446T>C | NP_277043.1:p.Phe149Ser | |
| NM_000162.4:c.449T>C | NP_000153.1:p.Phe150Ser | |
| NM_001354800.1:c.449T>C | NP_001341729.1:p.Phe150Ser | |
| NM_033507.2:c.452T>C | NP_277042.1:p.Phe151Ser | |
| NM_033508.2:c.446T>C | NP_277043.1:p.Phe149Ser | |
| NM_000162.5:c.449T>C MANE Select | NP_000153.1:p.Phe150Ser | |
| NM_033507.3:c.452T>C | NP_277042.1:p.Phe151Ser | |
| NM_033508.3:c.446T>C | NP_277043.1:p.Phe149Ser |