Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981041T>C , CM000667.2:g.149981041T>C | GRCh38 |
| NC_000005.9:g.149360604T>C , CM000667.1:g.149360604T>C | GRCh37 |
| NC_000005.8:g.149340797T>C | NCBI36 |
| NG_007147.2:g.22159T>C , LRG_684:g.22159T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000112.4:c.1448T>C MANE Select | NP_000103.2:p.Leu483Pro |
| ENST00000286298.5:c.1448T>C MANE Select | ENSP00000286298.4:p.Leu483Pro |
| NM_000112.3:c.1448T>C , LRG_684t1:c.1448T>C | NP_000103.2:p.Leu483Pro |
| ENST00000286298.4:c.1448T>C | ENSP00000286298.4:p.Leu483Pro |
| ENST00000503336.1:c.372+2690T>C | ENSP00000426053.1:n.372+2690T>C |
| XM_017009191.2:c.1448T>C | XP_016864680.1:p.Leu483Pro |