Linked Data
dbSNP Id:
rs1435544292
gnomAD v2:
5-90119488-T-C
gnomAD v3:
5-90823671-T-C
gnomAD v4:
5-90823671-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90823671T>C , CM000667.2:g.90823671T>C | GRCh38 |
| NC_000005.9:g.90119488T>C , CM000667.1:g.90119488T>C | GRCh37 |
| NC_000005.8:g.90155244T>C | NCBI36 |
| NG_007083.1:g.269872T>C | |
| NG_007083.2:g.299328T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.16368+75T>C MANE Select | ENSP00000384582.2:n.16368+75T>C | |
| ENST00000425867.3:c.5322+75T>C | ENSP00000392618.3:n.5322+75T>C | |
| ENST00000638510.1:n.3635+75T>C | ||
| ENST00000639431.1:c.265+147462T>C | ENSP00000491057.1:n.265+147462T>C | |
| ENST00000640061.1:n.128+1489T>C | ||
| ENST00000640407.1:c.2778+75T>C | ENSP00000491425.1:n.2778+75T>C | |
| ENST00000405460.6:c.16368+75T>C | ENSP00000384582.2:n.16368+75T>C | |
| ENST00000425867.2:c.3351+75T>C | ENSP00000392618.2:n.3351+75T>C | |
| NM_032119.3:c.16368+75T>C | NP_115495.3:n.16368+75T>C | |
| NR_003149.1:n.16381+75T>C | ||
| XM_011543675.1:c.16365+75T>C | XP_011541977.1:n.16365+75T>C | |
| XM_011543676.1:c.16287+75T>C | XP_011541978.1:n.16287+75T>C | |
| XM_011543677.1:c.13671+75T>C | XP_011541979.1:n.13671+75T>C | |
| NM_032119.4:c.16368+75T>C MANE Select | NP_115495.3:n.16368+75T>C | |
| XM_017009963.2:c.16389+75T>C | XP_016865452.1:n.16389+75T>C | |
| XM_017009964.2:c.16386+75T>C | XP_016865453.1:n.16386+75T>C | |
| XM_017009965.1:c.16386+75T>C | XP_016865454.1:n.16386+75T>C | |
| XM_017009966.2:c.16308+75T>C | XP_016865455.1:n.16308+75T>C | |
| XM_017009967.1:c.16293+75T>C | XP_016865456.1:n.16293+75T>C | |
| XM_017009968.2:c.16209+75T>C | XP_016865457.1:n.16209+75T>C | |
| XM_017009969.2:c.16389+75T>C | XP_016865458.1:n.16389+75T>C | |
| XM_017009972.1:c.9507+75T>C | XP_016865461.1:n.9507+75T>C | |
| XM_017009973.1:c.9486+75T>C | XP_016865462.1:n.9486+75T>C | |
| NR_003149.2:n.16384+75T>C |