Linked Data
dbSNP Id:
rs750210411
ExAC:
12:121174810 G / C
gnomAD v2:
12-121174810-G-C
gnomAD v4:
12-120737007-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120737007G>C , CM000674.2:g.120737007G>C | GRCh38 |
| NC_000012.11:g.121174810G>C , CM000674.1:g.121174810G>C | GRCh37 |
| NC_000012.10:g.119659193G>C | NCBI36 |
| NG_007991.1:g.16240G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.232G>C MANE Select | ENSP00000242592.4:p.Gly78Arg | |
| ENST00000242592.8:c.232G>C | ENSP00000242592.4:p.Gly78Arg | |
| ENST00000411593.2:c.232G>C | ENSP00000401045.2:p.Gly78Arg | |
| ENST00000539690.1:n.344G>C | ||
| NM_000017.3:c.232G>C | NP_000008.1:p.Gly78Arg | |
| NM_001302554.1:c.232G>C | NP_001289483.1:p.Gly78Arg | |
| NM_000017.4:c.232G>C MANE Select | NP_000008.1:p.Gly78Arg | |
| NM_001302554.2:c.232G>C | NP_001289483.1:p.Gly78Arg |