Linked Data
dbSNP Id:
rs118174081
gnomAD v2:
20-51778123-C-T
gnomAD v3:
20-53161584-C-T
gnomAD v4:
20-53161584-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.53161584C>T , CM000682.2:g.53161584C>T | GRCh38 |
| NC_000020.10:g.51778123C>T , CM000682.1:g.51778123C>T | GRCh37 |
| NC_000020.9:g.51211530C>T | NCBI36 |
| NG_053184.1:g.194276C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371497.10:c.41-91915C>T MANE Select | ENSP00000360552.3:n.41-91915C>T | |
| ENST00000371497.9:c.41-91915C>T | ENSP00000360552.3:n.41-91915C>T | |
| NM_173485.5:c.41-91915C>T | NP_775756.3:n.41-91915C>T | |
| XR_936498.1:n.1026-91915C>T | ||
| XM_017027640.1:c.41-91915C>T | XP_016883129.1:n.41-91915C>T | |
| XM_017027641.1:c.41-91915C>T | XP_016883130.1:n.41-91915C>T | |
| NM_173485.6:c.41-91915C>T MANE Select | NP_775756.3:n.41-91915C>T |