Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33026095T>C , CM000675.2:g.33026095T>C | GRCh38 |
| NC_000013.10:g.33600233T>C , CM000675.1:g.33600233T>C | GRCh37 |
| NC_000013.9:g.32498233T>C | NCBI36 |
| NG_011485.1:g.14663T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004795.4:c.819+8836T>C MANE Select | NP_004786.2:n.819+8836T>C |
| ENST00000380099.4:c.819+8836T>C MANE Select | ENSP00000369442.3:n.819+8836T>C |
| NM_004795.3:c.819+8836T>C | NP_004786.2:n.819+8836T>C |
| ENST00000380099.3:c.819+8836T>C | ENSP00000369442.3:n.819+8836T>C |
| ENST00000487852.1:n.827+8836T>C | |
| XM_006719895.1:c.-103+9782T>C | XP_006719958.1:n.-103+9782T>C |
| XM_006719895.2:c.-103+9782T>C | XP_006719958.1:n.-103+9782T>C |