Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33024849A>C , CM000675.2:g.33024849A>C | GRCh38 |
| NC_000013.10:g.33598987A>C , CM000675.1:g.33598987A>C | GRCh37 |
| NC_000013.9:g.32496987A>C | NCBI36 |
| NG_011485.1:g.13417A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004795.4:c.819+7590A>C MANE Select | NP_004786.2:n.819+7590A>C |
| ENST00000380099.4:c.819+7590A>C MANE Select | ENSP00000369442.3:n.819+7590A>C |
| NM_004795.3:c.819+7590A>C | NP_004786.2:n.819+7590A>C |
| ENST00000380099.3:c.819+7590A>C | ENSP00000369442.3:n.819+7590A>C |
| ENST00000487852.1:n.827+7590A>C | |
| XM_006719895.1:c.-103+8536A>C | XP_006719958.1:n.-103+8536A>C |
| XM_006719895.2:c.-103+8536A>C | XP_006719958.1:n.-103+8536A>C |