Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80875786T>C , CM000667.2:g.80875786T>C | GRCh38 |
| NC_000005.9:g.80171605T>C , CM000667.1:g.80171605T>C | GRCh37 |
| NC_000005.8:g.80207361T>C | NCBI36 |
| NG_016607.1:g.226312T>C | |
| NG_016607.2:g.226312T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002439.5:c.3338T>C MANE Select | NP_002430.3:p.Met1113Thr |
| ENST00000265081.7:c.3338T>C MANE Select | ENSP00000265081.6:p.Met1113Thr |
| NM_002439.4:c.3338T>C | NP_002430.3:p.Met1113Thr |
| ENST00000265081.6:c.3338T>C | ENSP00000265081.6:p.Met1113Thr |
| ENST00000658259.1:c.3170T>C | ENSP00000499617.1:p.Met1057Thr |
| ENST00000659302.1:c.746T>C | |
| ENST00000667069.1:c.3143T>C | ENSP00000499502.1:p.Met1048Thr |
| ENST00000670357.1:c.*662T>C | ENSP00000499791.1:n.*662T>C |