Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21600725T>G , CM000669.2:g.21600725T>G | GRCh38 |
| NC_000007.13:g.21640343T>G , CM000669.1:g.21640343T>G | GRCh37 |
| NC_000007.12:g.21606868T>G | NCBI36 |
| NG_012886.2:g.62511T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.3050T>G MANE Select | NP_001264044.1:p.Met1017Arg |
| ENST00000409508.8:c.3050T>G MANE Select | ENSP00000475939.1:p.Met1017Arg |
| NM_001277115.1:c.3050T>G | NP_001264044.1:p.Met1017Arg |
| ENST00000328843.10:c.3050T>G | ENSP00000330671.7:p.Met1017Arg |
| ENST00000409508.7:c.3050T>G | ENSP00000475939.1:p.Met1017Arg |
| ENST00000620169.4:c.3050T>G | ENSP00000481693.1:p.Met1017Arg |