Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41571524T>G , CM000679.2:g.41571524T>G | GRCh38 |
| NC_000017.10:g.39727776T>G , CM000679.1:g.39727776T>G | GRCh37 |
| NC_000017.9:g.36981302T>G | NCBI36 |
| NG_008300.1:g.5535A>C | |
| NG_008300.2:g.5535A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000226.4:c.469A>C MANE Select | NP_000217.2:p.Met157Leu |
| ENST00000246662.9:c.469A>C MANE Select | ENSP00000246662.4:p.Met157Leu |
| NM_000226.3:c.469A>C | NP_000217.2:p.Met157Leu |
| ENST00000246662.8:c.469A>C | ENSP00000246662.4:p.Met157Leu |
| ENST00000588431.1:c.-189-42A>C | ENSP00000467932.1:n.-189-42A>C |