Linked Data
dbSNP Id:
rs905470813
gnomAD v2:
4-187126227-T-C
gnomAD v3:
4-186205073-T-C
gnomAD v4:
4-186205073-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186205073T>C , CM000666.2:g.186205073T>C | GRCh38 |
| NC_000004.11:g.187126227T>C , CM000666.1:g.187126227T>C | GRCh37 |
| NC_000004.10:g.187363221T>C | NCBI36 |
| NG_007965.1:g.18554T>C | |
| NG_012095.2:g.1095T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.988-127T>C MANE Select | ENSP00000368079.4:n.988-127T>C | |
| ENST00000378802.4:c.988-127T>C | ENSP00000368079.4:n.988-127T>C | |
| ENST00000502665.1:n.222+15T>C | ||
| ENST00000507209.5:n.5559T>C | ||
| ENST00000513354.5:n.78-127T>C | ||
| NM_207352.3:c.988-127T>C | NP_997235.3:n.988-127T>C | |
| XM_005262935.2:c.988-127T>C | XP_005262992.1:n.988-127T>C | |
| XM_006714184.2:c.592-127T>C | XP_006714247.1:n.592-127T>C | |
| XM_005262935.4:c.988-127T>C | XP_005262992.1:n.988-127T>C | |
| XM_017008037.1:c.592-127T>C | XP_016863526.1:n.592-127T>C | |
| NM_207352.4:c.988-127T>C MANE Select | NP_997235.3:n.988-127T>C |