Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65246320T>C , CM000674.2:g.65246320T>C | GRCh38 |
| NC_000012.11:g.65640100T>C , CM000674.1:g.65640100T>C | GRCh37 |
| NC_000012.10:g.63926367T>C | NCBI36 |
| NG_016210.1:g.81750T>C | |
| NG_016210.2:g.81750T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.2731T>C MANE Select | ENSP00000308369.2:p.Ser911Pro | |
| ENST00000308330.2:c.2731T>C | ENSP00000308369.2:p.Ser911Pro | |
| ENST00000539442.1:n.713T>C | ||
| ENST00000545026.1:n.549T>C | ||
| NM_001167614.1:c.2728T>C | NP_001161086.1:p.Ser910Pro | |
| NM_014319.4:c.2731T>C | NP_055134.2:p.Ser911Pro | |
| NM_014319.5:c.2731T>C MANE Select | NP_055134.2:p.Ser911Pro | |
| NM_001167614.2:c.2728T>C | NP_001161086.1:p.Ser910Pro |