Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137567449G>C , CM000685.2:g.137567449G>C | GRCh38 |
| NC_000023.10:g.136649608G>C , CM000685.1:g.136649608G>C | GRCh37 |
| NC_000023.9:g.136477274G>C | NCBI36 |
| NG_008115.1:g.6263G>C | |
| NG_008115.2:g.6323G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003413.4:c.758G>C MANE Select | NP_003404.1:p.Cys253Ser |
| ENST00000287538.10:c.758G>C MANE Select | ENSP00000287538.5:p.Cys253Ser |
| NM_001330661.1:c.758G>C | NP_001317590.1:p.Cys253Ser |
| NM_003413.3:c.758G>C | NP_003404.1:p.Cys253Ser |
| ENST00000287538.9:c.758G>C | ENSP00000287538.5:p.Cys253Ser |
| ENST00000370606.3:c.758G>C | ENSP00000359638.3:p.Cys253Ser |