Linked Data
dbSNP Id:
rs1018132048
gnomAD v2:
13-33610180-A-C
gnomAD v3:
13-33036043-A-C
gnomAD v4:
13-33036043-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33036043A>C , CM000675.2:g.33036043A>C | GRCh38 |
| NC_000013.10:g.33610180A>C , CM000675.1:g.33610180A>C | GRCh37 |
| NC_000013.9:g.32508180A>C | NCBI36 |
| NG_011485.1:g.24610A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380099.4:c.820-17724A>C MANE Select | ENSP00000369442.3:n.820-17724A>C | |
| ENST00000380099.3:c.820-17724A>C | ENSP00000369442.3:n.820-17724A>C | |
| ENST00000487852.1:n.828-17724A>C | ||
| NM_004795.3:c.820-17724A>C | NP_004786.2:n.820-17724A>C | |
| XM_006719895.1:c.-102-17724A>C | XP_006719958.1:n.-102-17724A>C | |
| XM_006719895.2:c.-102-17724A>C | XP_006719958.1:n.-102-17724A>C | |
| NM_004795.4:c.820-17724A>C MANE Select | NP_004786.2:n.820-17724A>C |