Linked Data
ClinVar Variation Id:
739995
dbSNP Id:
rs149442040
ExAC:
22:36960791 G / A
gnomAD v2:
22-36960791-G-A
gnomAD v3:
22-36564744-G-A
gnomAD v4:
22-36564744-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564744G>A , CM000684.2:g.36564744G>A | GRCh38 |
| NC_000022.10:g.36960791G>A , CM000684.1:g.36960791G>A | GRCh37 |
| NC_000022.9:g.35290737G>A | NCBI36 |
| NG_031861.1:g.142900C>T | |
| NG_031861.2:g.143115C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.579C>T MANE Select | ENSP00000300105.6:p.Val193= | |
| ENST00000300105.6:c.579C>T | ENSP00000300105.6:p.Val193= | |
| NM_006078.3:c.579C>T | NP_006069.1:p.Val193= | |
| NM_006078.4:c.579C>T | NP_006069.1:p.Val193= | |
| XM_017028531.2:c.321C>T | XP_016884020.1:p.Val107= | |
| NM_001379051.1:c.510C>T | NP_001365980.1:p.Val170= | |
| NM_006078.5:c.579C>T MANE Select | NP_006069.1:p.Val193= | |
| NR_166440.1:n.1945C>T |