Linked Data
ClinVar Variation Id:
6588
ClinVar RCV Id:
RCV000006966
dbSNP Id:
rs121908937
gnomAD v4:
2-135829593-C-G
PubMed:
PMID:16400612
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135829593C>G , CM000664.2:g.135829593C>G | GRCh38 |
| NC_000002.11:g.136587163C>G , CM000664.1:g.136587163C>G | GRCh37 |
| NC_000002.10:g.136303633C>G | NCBI36 |
| NG_008104.2:g.30577G>C , LRG_338:g.30577G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264162.7:c.804G>C MANE Select | ENSP00000264162.2:p.Gln268His | |
| ENST00000264162.6:c.804G>C | ENSP00000264162.2:p.Gln268His | |
| NM_002299.2:c.804G>C , LRG_338t1:c.804G>C | NP_002290.2:p.Gln268His | |
| NM_002299.3:c.804G>C | NP_002290.2:p.Gln268His | |
| XM_017004088.2:c.804G>C | XP_016859577.1:p.Gln268His | |
| NM_002299.4:c.804G>C MANE Select | NP_002290.2:p.Gln268His |