Linked Data
ClinVar Variation Id:
14932
dbSNP Id:
rs137853239
gnomAD v2:
12-121437409-C-G
gnomAD v3:
12-120999606-C-G
gnomAD v4:
12-120999606-C-G
ERepo:
CA214665/MONDO:0015967/017
PubMed:
PMID:9313763
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120999606C>G , CM000674.2:g.120999606C>G | GRCh38 |
| NC_000012.11:g.121437409C>G , CM000674.1:g.121437409C>G | GRCh37 |
| NC_000012.10:g.119921792C>G | NCBI36 |
| NG_011731.2:g.25861C>G , LRG_522:g.25861C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*494C>G | ENSP00000453965.2:n.*494C>G | |
| ENST00000257555.11:c.1747C>G MANE Select | ENSP00000257555.5:p.Arg583Gly | |
| ENST00000257555.10:c.1747C>G | ENSP00000257555.4:p.Arg583Gly | |
| ENST00000540108.1:c.*1187C>G | ENSP00000445445.1:n.*1187C>G | |
| ENST00000541395.5:c.1840C>G | ENSP00000443112.1:p.Arg614Gly | |
| ENST00000543427.5:c.1210C>G | ENSP00000439721.2:p.Arg404Gly | |
| ENST00000544413.2:c.1768C>G | ENSP00000438804.1:p.Arg590Gly | |
| ENST00000560968.5:c.1564C>G | ||
| ENST00000615446.4:c.535C>G | ENSP00000483994.1:p.Arg179Gly | |
| ENST00000617366.4:c.*156C>G | ENSP00000481967.1:n.*156C>G | |
| NM_000545.5:c.1747C>G , LRG_522t1:c.1747C>G | NP_000536.5:p.Arg583Gly | |
| NM_000545.6:c.1747C>G | NP_000536.5:p.Arg583Gly | |
| NM_001306179.1:c.1768C>G | NP_001293108.1:p.Arg590Gly | |
| XM_005253931.2:c.1840C>G | XP_005253988.1:p.Arg614Gly | |
| XM_024449168.1:c.1840C>G | XP_024304936.1:p.Arg614Gly | |
| NM_000545.8:c.1747C>G MANE Select | NP_000536.6:p.Arg583Gly | |
| NM_001306179.2:c.1768C>G | NP_001293108.2:p.Arg590Gly |