Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920526T>C , CM000679.2:g.74920526T>C | GRCh38 |
| NC_000017.10:g.72916621T>C , CM000679.1:g.72916621T>C | GRCh37 |
| NC_000017.9:g.70428216T>C | NCBI36 |
| NG_007882.1:g.7731A>G | |
| NG_033062.1:g.1252T>C | |
| NG_007882.2:g.7738A>G | |
| NG_033062.2:g.1252T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173477.5:c.310A>G MANE Select | NP_775748.2:p.Met104Val |
| ENST00000614341.5:c.310A>G MANE Select | ENSP00000480279.1:p.Met104Val |
| NM_001282489.2:c.1A>G | NP_001269418.1:p.Met1Val |
| NM_001282489.3:c.1A>G | NP_001269418.1:p.Met1Val |
| NM_173477.4:c.310A>G | NP_775748.2:p.Met104Val |
| ENST00000579243.1:c.257A>G | ENSP00000462568.1:p.His86Arg |
| ENST00000614341.4:c.310A>G | ENSP00000480279.1:p.Met104Val |
| XM_011524296.1:c.1A>G | XP_011522598.1:p.Met1Val |
| XM_011524296.2:c.1A>G | XP_011522598.1:p.Met1Val |