Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88716885A>G , CM000678.2:g.88716885A>G | GRCh38 |
| NC_000016.9:g.88783293A>G , CM000678.1:g.88783293A>G | GRCh37 |
| NC_000016.8:g.87310794A>G | NCBI36 |
| NG_042229.1:g.73336T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001142864.4:c.6674T>C MANE Select | NP_001136336.2:p.Met2225Thr |
| ENST00000301015.14:c.6674T>C MANE Select | ENSP00000301015.9:p.Met2225Thr |
| NM_001142864.2:c.6674T>C | NP_001136336.2:p.Met2225Thr |
| NM_001142864.3:c.6674T>C | NP_001136336.2:p.Met2225Thr |
| ENST00000301015.13:c.6674T>C | ENSP00000301015.9:p.Met2225Thr |
| ENST00000327397.8:c.278T>C | ENSP00000333704.7:p.Met93Thr |
| ENST00000419505.5:c.519T>C | ENSP00000406358.1:n.519T>C |
| ENST00000484567.5:n.1310T>C | |
| ENST00000484567.6:n.1733T>C |