Linked Data
dbSNP Id:
rs1164878004
gnomAD v2:
10-96748735-G-C
gnomAD v3:
10-94988978-G-C
gnomAD v4:
10-94988978-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94988978G>C , CM000672.2:g.94988978G>C | GRCh38 |
| NC_000010.10:g.96748735G>C , CM000672.1:g.96748735G>C | GRCh37 |
| NC_000010.9:g.96738725G>C | NCBI36 |
| NG_008385.1:g.55321G>C | |
| NG_008385.2:g.55821G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.1423G>C MANE Select | ENSP00000260682.6:p.Gly475Arg | |
| ENST00000643112.1:c.*432G>C | ENSP00000496202.1:n.*432G>C | |
| ENST00000260682.6:c.1423G>C | ENSP00000260682.6:p.Gly475Arg | |
| NM_000771.3:c.1423G>C | NP_000762.2:p.Gly475Arg | |
| NM_000771.4:c.1423G>C MANE Select | NP_000762.2:p.Gly475Arg |