Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74705310T>C , CM000667.2:g.74705310T>C | GRCh38 |
| NC_000005.9:g.74001135T>C , CM000667.1:g.74001135T>C | GRCh37 |
| NC_000005.8:g.74036891T>C | NCBI36 |
| NG_009770.1:g.25167T>C | |
| NG_009770.2:g.70288T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.761T>C MANE Select | NP_000512.2:p.Leu254Ser |
| ENST00000261416.12:c.761T>C MANE Select | ENSP00000261416.7:p.Leu254Ser |
| NM_000521.3:c.761T>C | NP_000512.1:p.Leu254Ser |
| NM_001292004.1:c.86T>C | NP_001278933.1:p.Leu29Ser |
| NM_001292004.2:c.86T>C | NP_001278933.1:p.Leu29Ser |
| ENST00000261416.11:c.761T>C | ENSP00000261416.7:p.Leu254Ser |
| ENST00000511181.5:c.86T>C | ENSP00000426285.1:p.Leu29Ser |
| ENST00000513079.5:n.826T>C |