Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20005702A>G , CM000664.2:g.20005702A>G | GRCh38 |
| NC_000002.11:g.20205463A>G , CM000664.1:g.20205463A>G | GRCh37 |
| NC_000002.10:g.20068944A>G | NCBI36 |
| NG_008087.1:g.11993T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407540.8:c.790+42T>C MANE Select | ENSP00000383894.3:n.790+42T>C | |
| ENST00000407540.7:c.790+42T>C | ENSP00000383894.3:n.790+42T>C | |
| ENST00000421259.2:c.790+42T>C | ENSP00000398753.2:n.790+42T>C | |
| NM_002381.4:c.790+42T>C | NP_002372.1:n.790+42T>C | |
| NM_002381.5:c.790+42T>C MANE Select | NP_002372.1:n.790+42T>C |