Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12761621A>C , CM000686.2:g.12761621A>C | GRCh38 |
| NC_000024.9:g.14873551A>C , CM000686.1:g.14873551A>C | GRCh37 |
| NC_000024.8:g.13382945A>C | NCBI36 |
| NG_008311.1:g.65392A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651177.1:c.1900+1004A>C | ENSP00000498372.1:n.1900+1004A>C | |
| ENST00000338981.7:c.1900+1004A>C MANE Select | ENSP00000342812.3:n.1900+1004A>C | |
| ENST00000426564.6:n.1912+1004A>C | ||
| NM_004654.3:c.1900+1004A>C | NP_004645.2:n.1900+1004A>C | |
| XM_011531469.1:c.1900+1004A>C | XP_011529771.1:n.1900+1004A>C | |
| XM_011531470.1:c.1666+1004A>C | XP_011529772.1:n.1666+1004A>C | |
| XM_017030078.2:c.1915+1004A>C | XP_016885567.1:n.1915+1004A>C | |
| NM_004654.4:c.1900+1004A>C MANE Select | NP_004645.2:n.1900+1004A>C |