Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38071276A>G , CM000664.2:g.38071276A>G | GRCh38 |
| NC_000002.11:g.38298419A>G , CM000664.1:g.38298419A>G | GRCh37 |
| NC_000002.10:g.38151923A>G | NCBI36 |
| NG_008386.2:g.9826T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000104.4:c.1078T>C MANE Select | NP_000095.2:p.Leu360= |
| ENST00000610745.5:c.1078T>C MANE Select | ENSP00000478561.1:p.Leu360= |
| NM_000104.3:c.1078T>C | NP_000095.2:p.Leu360= |
| ENST00000490576.2:c.1078T>C | ENSP00000478839.2:p.Leu360= |
| ENST00000492443.1:n.456T>C | |
| ENST00000494864.1:c.-36T>C | ENSP00000479876.1:n.-36T>C |
| ENST00000610745.4:c.1078T>C | ENSP00000478561.1:p.Leu360= |
| ENST00000613082.1:n.473T>C | |
| ENST00000614273.1:c.1078T>C | ENSP00000483678.1:p.Leu360= |