Linked Data
dbSNP Id:
rs755307202
ExAC:
17:54672188 G / C
gnomAD v2:
17-54672188-G-C
gnomAD v4:
17-56594827-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594827G>C , CM000679.2:g.56594827G>C | GRCh38 |
| NC_000017.10:g.54672188G>C , CM000679.1:g.54672188G>C | GRCh37 |
| NC_000017.9:g.52027187G>C | NCBI36 |
| NG_011958.1:g.6129G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.604G>C MANE Select | ENSP00000328181.4:p.Val202Leu | |
| ENST00000332822.4:c.604G>C | ENSP00000328181.4:p.Val202Leu | |
| NM_005450.4:c.604G>C | NP_005441.1:p.Val202Leu | |
| NM_005450.6:c.604G>C MANE Select | NP_005441.1:p.Val202Leu |