Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119669744A>G , CM000672.2:g.119669744A>G | GRCh38 |
| NC_000010.10:g.121429256A>G , CM000672.1:g.121429256A>G | GRCh37 |
| NC_000010.9:g.121419246A>G | NCBI36 |
| NG_016125.1:g.23375A>G , LRG_742:g.23375A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004281.4:c.181-107A>G MANE Select | NP_004272.2:n.181-107A>G |
| ENST00000369085.8:c.181-107A>G MANE Select | ENSP00000358081.4:n.181-107A>G |
| NM_004281.3:c.181-107A>G , LRG_742t1:c.181-107A>G | NP_004272.2:n.181-107A>G |
| ENST00000369085.7:c.181-107A>G | ENSP00000358081.3:n.181-107A>G |
| ENST00000450186.1:c.7-107A>G | ENSP00000410036.1:n.7-107A>G |
| XM_005270287.1:c.181-107A>G | XP_005270344.1:n.181-107A>G |
| XM_005270287.2:c.181-107A>G | XP_005270344.1:n.181-107A>G |