Linked Data
dbSNP Id:
rs762818650
gnomAD v2:
6-36651959-C-A
gnomAD v3:
6-36684182-C-A
gnomAD v4:
6-36684182-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.36684182C>A , CM000668.2:g.36684182C>A | GRCh38 |
| NC_000006.11:g.36651959C>A , CM000668.1:g.36651959C>A | GRCh37 |
| NC_000006.10:g.36759937C>A | NCBI36 |
| NG_009364.1:g.10501C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244741.10:c.81C>A MANE Select | ENSP00000244741.6:p.Ser27Arg | |
| ENST00000244741.9:c.81C>A | ENSP00000244741.5:p.Ser27Arg | |
| ENST00000373711.3:c.81C>A | ENSP00000362815.1:p.Ser27Arg | |
| ENST00000405375.5:c.81C>A | ENSP00000384849.1:p.Ser27Arg | |
| ENST00000448526.6:c.81C>A | ENSP00000409259.3:p.Ser27Arg | |
| ENST00000459970.1:n.275C>A | ||
| ENST00000478800.1:n.300C>A | ||
| ENST00000615513.4:c.81C>A | ENSP00000482768.1:p.Ser27Arg | |
| NM_000389.4:c.81C>A | NP_000380.1:p.Ser27Arg | |
| NM_001220777.1:c.81C>A | NP_001207706.1:p.Ser27Arg | |
| NM_001220778.1:c.81C>A | NP_001207707.1:p.Ser27Arg | |
| NM_001291549.1:c.183C>A | NP_001278478.1:p.Ser61Arg | |
| NM_078467.2:c.81C>A | NP_510867.1:p.Ser27Arg | |
| NM_000389.5:c.81C>A MANE Select | NP_000380.1:p.Ser27Arg | |
| NM_001220777.2:c.81C>A | NP_001207706.1:p.Ser27Arg | |
| NM_001220778.2:c.81C>A | NP_001207707.1:p.Ser27Arg | |
| NM_001291549.3:c.183C>A | NP_001278478.1:p.Ser61Arg | |
| NM_001374509.1:c.183C>A | NP_001361438.1:p.Ser61Arg | |
| NM_001374510.1:c.120C>A | NP_001361439.1:p.Ser40Arg | |
| NM_001374511.1:c.81C>A | NP_001361440.1:p.Ser27Arg | |
| NM_001374512.1:c.81C>A | NP_001361441.1:p.Ser27Arg | |
| NM_001374513.1:c.81C>A | NP_001361442.1:p.Ser27Arg | |
| NM_078467.3:c.81C>A | NP_510867.1:p.Ser27Arg |