Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71130208C>G , CM000664.2:g.71130208C>G | GRCh38 |
| NC_000002.11:g.71357338C>G , CM000664.1:g.71357338C>G | GRCh37 |
| NC_000002.10:g.71210846C>G | NCBI36 |
| NG_008977.1:g.5057G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.12G>C MANE Select | ENSP00000244217.5:p.Val4= | |
| ENST00000244217.5:c.12G>C | ENSP00000244217.5:p.Val4= | |
| ENST00000486135.1:c.-375G>C | ENSP00000441569.1:n.-375G>C | |
| ENST00000494660.6:c.-737G>C | ENSP00000437361.1:n.-737G>C | |
| NM_032601.3:c.12G>C | NP_115990.3:p.Val4= | |
| XM_005264613.2:c.12G>C | XP_005264670.1:p.Val4= | |
| XR_939729.1:n.81G>C | ||
| XR_939729.2:n.81G>C | ||
| NM_032601.4:c.12G>C MANE Select | NP_115990.3:p.Val4= |