Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35876916C>T , CM000667.2:g.35876916C>T | GRCh38 |
| NC_000005.9:g.35877018C>T , CM000667.1:g.35877018C>T | GRCh37 |
| NC_000005.8:g.35912775C>T | NCBI36 |
| NG_009567.1:g.25028C>T , LRG_74:g.25028C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002185.5:c.*430C>T MANE Select | NP_002176.2:n.*430C>T |
| ENST00000303115.8:c.*430C>T MANE Select | ENSP00000306157.3:n.*430C>T |
| NM_002185.3:c.*430C>T | NP_002176.2:n.*430C>T |
| NM_002185.4:c.*430C>T | NP_002176.2:n.*430C>T |
| NR_120485.1:n.1650C>T | |
| NR_120485.2:n.1676C>T | |
| NR_120485.3:n.1634C>T | |
| ENST00000303115.7:c.*430C>T | ENSP00000306157.3:n.*430C>T |
| XM_005248299.4:c.*927C>T | XP_005248356.1:n.*927C>T |