ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128635138A>G , CM000671.2:g.128635138A>G | GRCh38 |
| NC_000009.11:g.131397417A>G , CM000671.1:g.131397417A>G | GRCh37 |
| NC_000009.10:g.130437238A>G | NCBI36 |
| NG_027748.1:g.87581A>G | |
| NG_034056.1:g.26713T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372715.7:c.935T>C MANE Select | ENSP00000361800.2:p.Phe312Ser | |
| ENST00000372715.6:c.935T>C | ENSP00000361800.2:p.Phe312Ser | |
| ENST00000483181.1:n.528T>C | ||
| NM_052844.3:c.935T>C | NP_443076.2:p.Phe312Ser | |
| XM_011519179.1:c.851T>C | XP_011517481.1:p.Phe284Ser | |
| XM_011519179.2:c.851T>C | XP_011517481.1:p.Phe284Ser | |
| NM_052844.4:c.935T>C MANE Select | NP_443076.2:p.Phe312Ser |