Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36487596T>G , CM000673.2:g.36487596T>G | GRCh38 |
| NC_000011.9:g.36509146T>G , CM000673.1:g.36509146T>G | GRCh37 |
| NC_000011.8:g.36465722T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004620.4:c.*2242A>C MANE Select | NP_004611.1:n.*2242A>C |
| ENST00000526995.6:c.*2242A>C MANE Select | ENSP00000433623.1:n.*2242A>C |
| NM_004620.3:c.*2242A>C | NP_004611.1:n.*2242A>C |
| NM_145803.2:c.*2242A>C | NP_665802.1:n.*2242A>C |
| NM_145803.3:c.*2242A>C | NP_665802.1:n.*2242A>C |
| ENST00000526995.5:c.*2242A>C | ENSP00000433623.1:n.*2242A>C |