Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50913032C>T , CM000676.2:g.50913032C>T | GRCh38 |
| NC_000014.8:g.51379750C>T , CM000676.1:g.51379750C>T | GRCh37 |
| NC_000014.7:g.50449500C>T | NCBI36 |
| NG_012796.1:g.36499G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002863.5:c.1617G>A MANE Select | NP_002854.3:p.Lys539= |
| ENST00000216392.8:c.1617G>A MANE Select | ENSP00000216392.7:p.Lys539= |
| NM_001163940.1:c.1515G>A | NP_001157412.1:p.Lys505= |
| NM_001163940.2:c.1515G>A | NP_001157412.1:p.Lys505= |
| NM_002863.4:c.1617G>A | NP_002854.3:p.Lys539= |
| ENST00000216392.7:c.1617G>A | ENSP00000216392.7:p.Lys539= |
| ENST00000532462.5:c.1617G>A | ENSP00000431657.1:p.Lys539= |
| ENST00000544180.6:c.1515G>A | ENSP00000443787.1:p.Lys505= |