Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99836279C>T , CM000672.2:g.99836279C>T | GRCh38 |
| NC_000010.10:g.101596036C>T , CM000672.1:g.101596036C>T | GRCh37 |
| NC_000010.9:g.101586026C>T | NCBI36 |
| NG_011798.1:g.58574C>T | |
| NG_011798.2:g.58682C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3603C>T MANE Select | ENSP00000497274.1:p.Ile1201= | |
| ENST00000370449.8:c.3603C>T | ENSP00000359478.4:p.Ile1201= | |
| NM_000392.4:c.3603C>T | NP_000383.1:p.Ile1201= | |
| XM_006717630.2:c.2907C>T | XP_006717693.1:p.Ile969= | |
| XR_945604.1:n.3792C>T | ||
| XR_945605.1:n.3794C>T | ||
| NM_000392.5:c.3603C>T MANE Select | NP_000383.2:p.Ile1201= | |
| XM_006717630.3:c.2907C>T | XP_006717693.1:p.Ile969= | |
| XR_945604.3:n.3846C>T | ||
| XR_945605.3:n.3846C>T |