Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75771855G>A , CM000676.2:g.75771855G>A | GRCh38 |
| NC_000014.8:g.76238198G>A , CM000676.1:g.76238198G>A | GRCh37 |
| NC_000014.7:g.75307951G>A | NCBI36 |
| NG_016974.1:g.115648G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015072.5:c.2136+1G>A MANE Select | NP_055887.3:n.2136+1G>A |
| ENST00000298832.14:c.2136+1G>A MANE Select | ENSP00000298832.9:n.2136+1G>A |
| NM_015072.4:c.2136+1G>A | NP_055887.3:n.2136+1G>A |
| ENST00000298832.13:c.2136+1G>A | ENSP00000298832.9:n.2136+1G>A |
| ENST00000554510.5:c.663+1G>A | ENSP00000451946.1:n.663+1G>A |
| ENST00000555422.5:n.1442+1G>A | |
| ENST00000556893.5:c.789+1G>A | ENSP00000452524.1:n.789+1G>A |
| ENST00000557636.5:c.2178+1G>A | ENSP00000450713.1:n.2178+1G>A |