Linked Data
dbSNP Id:
rs564979879
ExAC:
20:44639628 C / T
gnomAD v2:
20-44639628-C-T
gnomAD v3:
20-46010989-C-T
gnomAD v4:
20-46010989-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46010989C>T , CM000682.2:g.46010989C>T | GRCh38 |
| NC_000020.10:g.44639628C>T , CM000682.1:g.44639628C>T | GRCh37 |
| NC_000020.9:g.44073035C>T | NCBI36 |
| NG_011468.1:g.7082C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.588C>T MANE Select | ENSP00000361405.3:p.Pro196= | |
| NM_004994.2:c.588C>T | NP_004985.2:p.Pro196= | |
| NM_004994.3:c.588C>T MANE Select | NP_004985.2:p.Pro196= |