Linked Data
dbSNP Id:
rs1460196
gnomAD v2:
18-50215412-C-T
gnomAD v3:
18-52689042-C-T
gnomAD v4:
18-52689042-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.52689042C>T , CM000680.2:g.52689042C>T | GRCh38 |
| NC_000018.9:g.50215412C>T , CM000680.1:g.50215412C>T | GRCh37 |
| NC_000018.8:g.48469410C>T | NCBI36 |
| NG_013341.1:g.353871C>T | |
| NG_013341.2:g.353871C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000442544.7:c.92-63012C>T MANE Select | ENSP00000389140.2:n.92-63012C>T | |
| ENST00000442544.6:c.92-63012C>T | ENSP00000389140.2:n.92-63012C>T | |
| NM_005215.3:c.92-63012C>T | NP_005206.2:n.92-63012C>T | |
| XM_011525843.1:c.92-63012C>T | XP_011524145.1:n.92-63012C>T | |
| XM_011525845.1:c.92-63012C>T | XP_011524147.1:n.92-63012C>T | |
| XM_011525846.1:c.92-63012C>T | XP_011524148.1:n.92-63012C>T | |
| XM_017025568.1:c.92-63012C>T | XP_016881057.1:n.92-63012C>T | |
| XM_017025569.1:c.92-63012C>T | XP_016881058.1:n.92-63012C>T | |
| NM_005215.4:c.92-63012C>T MANE Select | NP_005206.2:n.92-63012C>T |