Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84459236C>A , CM000664.2:g.84459236C>A | GRCh38 |
| NC_000002.11:g.84686360C>A , CM000664.1:g.84686360C>A | GRCh37 |
| NC_000002.10:g.84539871C>A | NCBI36 |
| NG_016755.1:g.5227G>T | |
| NG_050957.1:g.4697C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003849.4:c.34G>T MANE Select | NP_003840.2:p.Ala12Ser |
| ENST00000393868.7:c.34G>T MANE Select | ENSP00000377446.2:p.Ala12Ser |
| NM_003849.3:c.34G>T | NP_003840.2:p.Ala12Ser |
| ENST00000393868.6:c.34G>T | ENSP00000377446.2:p.Ala12Ser |
| ENST00000430989.1:n.11G>T | |
| ENST00000442240.5:c.26G>T | |
| ENST00000483605.5:n.1G>T | |
| ENST00000491642.5:n.269+541G>T | |
| ENST00000651342.1:c.34G>T | ENSP00000498471.1:p.Ala12Ser |