Linked Data
dbSNP Id:
rs72646282
gnomAD v2:
4-187126251-G-A
gnomAD v3:
4-186205097-G-A
gnomAD v4:
4-186205097-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186205097G>A , CM000666.2:g.186205097G>A | GRCh38 |
| NC_000004.11:g.187126251G>A , CM000666.1:g.187126251G>A | GRCh37 |
| NC_000004.10:g.187363245G>A | NCBI36 |
| NG_007965.1:g.18578G>A | |
| NG_012095.2:g.1119G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.988-103G>A MANE Select | ENSP00000368079.4:n.988-103G>A | |
| ENST00000378802.4:c.988-103G>A | ENSP00000368079.4:n.988-103G>A | |
| ENST00000502665.1:n.222+39G>A | ||
| ENST00000507209.5:n.5583G>A | ||
| ENST00000513354.5:n.78-103G>A | ||
| NM_207352.3:c.988-103G>A | NP_997235.3:n.988-103G>A | |
| XM_005262935.2:c.988-103G>A | XP_005262992.1:n.988-103G>A | |
| XM_006714184.2:c.592-103G>A | XP_006714247.1:n.592-103G>A | |
| XM_005262935.4:c.988-103G>A | XP_005262992.1:n.988-103G>A | |
| XM_017008037.1:c.592-103G>A | XP_016863526.1:n.592-103G>A | |
| NM_207352.4:c.988-103G>A MANE Select | NP_997235.3:n.988-103G>A |