Linked Data
dbSNP Id:
rs1221256035
gnomAD v2:
22-43558840-C-T
gnomAD v3:
22-43162834-C-T
gnomAD v4:
22-43162834-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43162834C>T , CM000684.2:g.43162834C>T | GRCh38 |
| NC_000022.10:g.43558840C>T , CM000684.1:g.43558840C>T | GRCh37 |
| NC_000022.9:g.41888784C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337554.8:c.353C>T MANE Select | ENSP00000338004.3:p.Ala118Val | |
| ENST00000329563.8:c.353C>T | ENSP00000328973.4:p.Ala118Val | |
| ENST00000337554.7:c.353C>T | ENSP00000338004.3:p.Ala118Val | |
| ENST00000396265.4:c.353C>T | ENSP00000379563.4:p.Ala118Val | |
| ENST00000583777.5:c.41C>T | ENSP00000463495.1:p.Ala14Val | |
| NM_000714.5:c.353C>T | NP_000705.2:p.Ala118Val | |
| NM_001256530.1:c.353C>T | NP_001243459.1:p.Ala118Val | |
| NM_001256531.1:c.353C>T | NP_001243460.1:p.Ala118Val | |
| NR_046308.1:n.262C>T | ||
| NM_000714.6:c.353C>T MANE Select | NP_000705.2:p.Ala118Val | |
| NR_046308.2:n.217C>T |