Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35312354T>C , CM000668.2:g.35312354T>C | GRCh38 |
| NC_000006.11:g.35280131T>C , CM000668.1:g.35280131T>C | GRCh37 |
| NC_000006.10:g.35388109T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022047.4:c.476T>C MANE Select | NP_071330.3:p.Leu159Ser |
| ENST00000316637.7:c.476T>C MANE Select | ENSP00000319831.5:p.Leu159Ser |
| NM_022047.3:c.476T>C | NP_071330.3:p.Leu159Ser |
| ENST00000316637.6:c.476T>C | ENSP00000319831.5:p.Leu159Ser |
| ENST00000444278.2:c.201T>C | |
| ENST00000444278.3:c.365T>C | ENSP00000415357.3:p.Leu122Ser |
| ENST00000698929.1:c.423+1710T>C | ENSP00000514040.1:n.423+1710T>C |
| ENST00000698930.1:c.*123T>C | ENSP00000514041.1:n.*123T>C |
| ENST00000698931.1:n.500T>C |