Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99835901C>T , CM000672.2:g.99835901C>T | GRCh38 |
| NC_000010.10:g.101595658C>T , CM000672.1:g.101595658C>T | GRCh37 |
| NC_000010.9:g.101585648C>T | NCBI36 |
| NG_011798.1:g.58196C>T | |
| NG_011798.2:g.58304C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3415-190C>T MANE Select | ENSP00000497274.1:n.3415-190C>T | |
| ENST00000370449.8:c.3415-190C>T | ENSP00000359478.4:n.3415-190C>T | |
| NM_000392.4:c.3415-190C>T | NP_000383.1:n.3415-190C>T | |
| XM_006717630.2:c.2719-190C>T | XP_006717693.1:n.2719-190C>T | |
| XR_945604.1:n.3604-190C>T | ||
| XR_945605.1:n.3606-190C>T | ||
| NM_000392.5:c.3415-190C>T MANE Select | NP_000383.2:n.3415-190C>T | |
| XM_006717630.3:c.2719-190C>T | XP_006717693.1:n.2719-190C>T | |
| XR_945604.3:n.3658-190C>T | ||
| XR_945605.3:n.3658-190C>T |