Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2306670C>T , CM000663.2:g.2306670C>T | GRCh38 |
| NC_000001.10:g.2238109C>T , CM000663.1:g.2238109C>T | GRCh37 |
| NC_000001.9:g.2227969C>T | NCBI36 |
| NG_013084.1:g.82976C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003036.4:c.2092C>T MANE Select | NP_003027.1:p.Leu698= |
| ENST00000378536.5:c.2092C>T MANE Select | ENSP00000367797.4:p.Leu698= |
| NM_003036.3:c.2092C>T | NP_003027.1:p.Leu698= |
| ENST00000378536.4:c.2092C>T | ENSP00000367797.4:p.Leu698= |
| XM_005244775.2:c.2098C>T | XP_005244832.1:p.Leu700= |
| XM_005244775.3:c.2098C>T | XP_005244832.1:p.Leu700= |
| XM_005244776.3:c.1228C>T | XP_005244833.1:p.Leu410= |
| XM_005244776.4:c.1228C>T | XP_005244833.1:p.Leu410= |
| XM_017002128.1:c.1606C>T | XP_016857617.1:p.Leu536= |