Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980341G>C , CM000667.2:g.149980341G>C | GRCh38 |
| NC_000005.9:g.149359904G>C , CM000667.1:g.149359904G>C | GRCh37 |
| NC_000005.8:g.149340097G>C | NCBI36 |
| NG_007147.2:g.21459G>C , LRG_684:g.21459G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.748G>C MANE Select | ENSP00000286298.4:p.Asp250His | |
| ENST00000286298.4:c.748G>C | ENSP00000286298.4:p.Asp250His | |
| ENST00000503336.1:c.372+1990G>C | ENSP00000426053.1:n.372+1990G>C | |
| NM_000112.3:c.748G>C , LRG_684t1:c.748G>C | NP_000103.2:p.Asp250His | |
| XM_017009191.2:c.748G>C | XP_016864680.1:p.Asp250His | |
| NM_000112.4:c.748G>C MANE Select | NP_000103.2:p.Asp250His |