Linked Data
dbSNP Id:
rs773842942
ExAC:
22:36960877 A / C
gnomAD v2:
22-36960877-A-C
gnomAD v4:
22-36564830-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564830A>C , CM000684.2:g.36564830A>C | GRCh38 |
| NC_000022.10:g.36960877A>C , CM000684.1:g.36960877A>C | GRCh37 |
| NC_000022.9:g.35290823A>C | NCBI36 |
| NG_031861.1:g.142814T>G | |
| NG_031861.2:g.143029T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.493T>G MANE Select | ENSP00000300105.6:p.Ser165Ala | |
| ENST00000300105.6:c.493T>G | ENSP00000300105.6:p.Ser165Ala | |
| NM_006078.3:c.493T>G | NP_006069.1:p.Ser165Ala | |
| NM_006078.4:c.493T>G | NP_006069.1:p.Ser165Ala | |
| XM_017028531.2:c.235T>G | XP_016884020.1:p.Ser79Ala | |
| NM_001379051.1:c.424T>G | NP_001365980.1:p.Ser142Ala | |
| NM_006078.5:c.493T>G MANE Select | NP_006069.1:p.Ser165Ala | |
| NR_166440.1:n.1859T>G |