Linked Data
dbSNP Id:
rs10021303
gnomAD v2:
4-95856681-G-A
gnomAD v3:
4-94935530-G-A
gnomAD v4:
4-94935530-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.94935530G>A , CM000666.2:g.94935530G>A | GRCh38 |
| NC_000004.11:g.95856681G>A , CM000666.1:g.95856681G>A | GRCh37 |
| NC_000004.10:g.96075704G>A | NCBI36 |
| NG_009245.1:g.182554G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000515059.6:c.-113+59630G>A MANE Select | ENSP00000426617.1:n.-113+59630G>A | |
| ENST00000515059.5:c.-113+59630G>A | ENSP00000426617.1:n.-113+59630G>A | |
| NM_001203.2:c.-113+59630G>A | NP_001194.1:n.-113+59630G>A | |
| XM_011532201.1:c.-18+59630G>A | XP_011530503.1:n.-18+59630G>A | |
| XM_011532201.2:c.-18+59630G>A | XP_011530503.1:n.-18+59630G>A | |
| XM_017008558.1:c.-113+59630G>A | XP_016864047.1:n.-113+59630G>A | |
| XM_017008559.1:c.-113+36480G>A | XP_016864048.1:n.-113+36480G>A | |
| NM_001203.3:c.-113+59630G>A MANE Select | NP_001194.1:n.-113+59630G>A |