Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1271069C>T , CM000679.2:g.1271069C>T | GRCh38 |
| NC_000017.10:g.1174363C>T , CM000679.1:g.1174363C>T | GRCh37 |
| NC_000017.9:g.1121113C>T | NCBI36 |
| NG_042055.1:g.5506C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391429.2:c.506C>T MANE Select | ENSP00000375248.1:p.Ser169Leu | |
| ENST00000391429.1:c.506C>T | ENSP00000375248.1:p.Ser169Leu | |
| NM_001164405.1:c.506C>T | NP_001157877.1:p.Ser169Leu | |
| NM_001164405.2:c.506C>T MANE Select | NP_001157877.1:p.Ser169Leu |