Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848142C>G , CM000681.2:g.35848142C>G | GRCh38 |
| NC_000019.9:g.36339044C>G , CM000681.1:g.36339044C>G | GRCh37 |
| NC_000019.8:g.41030884C>G | NCBI36 |
| NG_013356.2:g.26146G>C , LRG_693:g.26146G>C | |
| NG_051206.1:g.1508C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004646.4:c.1339G>C MANE Select | NP_004637.1:p.Glu447Gln |
| ENST00000378910.10:c.1339G>C MANE Select | ENSP00000368190.4:p.Glu447Gln |
| NM_004646.3:c.1339G>C , LRG_693t1:c.1339G>C | NP_004637.1:p.Glu447Gln |
| ENST00000353632.6:c.1339G>C | ENSP00000343634.5:p.Glu447Gln |
| ENST00000378910.9:c.1339G>C | ENSP00000368190.4:p.Glu447Gln |
| ENST00000592132.1:n.346G>C |