Linked Data
dbSNP Id:
rs774232250
ExAC:
22:32871072 C / T
gnomAD v2:
22-32871072-C-T
gnomAD v3:
22-32475085-C-T
gnomAD v4:
22-32475085-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32475085C>T , CM000684.2:g.32475085C>T | GRCh38 |
| NC_000022.10:g.32871072C>T , CM000684.1:g.32871072C>T | GRCh37 |
| NC_000022.9:g.31201072C>T | NCBI36 |
| NG_016001.1:g.5366C>T | |
| NG_016001.2:g.5366C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.83C>T MANE Select | ENSP00000266087.7:p.Ser28Leu | |
| ENST00000266087.11:c.83C>T | ENSP00000266087.7:p.Ser28Leu | |
| ENST00000420700.5:c.83C>T | ENSP00000406155.1:p.Ser28Leu | |
| ENST00000425028.5:c.83C>T | ENSP00000395823.1:p.Ser28Leu | |
| ENST00000492535.1:n.71C>T | ||
| NM_012179.3:c.83C>T | NP_036311.3:p.Ser28Leu | |
| XM_011530106.1:c.-91C>T | XP_011528408.1:n.-91C>T | |
| XM_024452207.1:c.-108C>T | XP_024307975.1:n.-108C>T | |
| NM_012179.4:c.83C>T MANE Select | NP_036311.3:p.Ser28Leu |