Linked Data
ClinVar Variation Id:
217273
dbSNP Id:
rs774047299
ExAC:
10:97366562 T / C
gnomAD v2:
10-97366562-T-C
gnomAD v3:
10-95606805-T-C
gnomAD v4:
10-95606805-T-C
PubMed:
PMID:24767728
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95606805T>C , CM000672.2:g.95606805T>C | GRCh38 |
| NC_000010.10:g.97366562T>C , CM000672.1:g.97366562T>C | GRCh37 |
| NC_000010.9:g.97356552T>C | NCBI36 |
| NG_012258.1:g.55006A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371224.7:c.2345A>G MANE Select | ENSP00000360268.2:p.Tyr782Cys | |
| ENST00000371221.3:c.2339A>G | ENSP00000360265.3:p.Tyr780Cys | |
| ENST00000371224.6:c.2345A>G | ENSP00000360268.2:p.Tyr782Cys | |
| NM_001017423.1:c.2339A>G | NP_001017423.1:p.Tyr780Cys | |
| NM_002860.3:c.2345A>G | NP_002851.2:p.Tyr782Cys | |
| XM_006717933.1:c.2345A>G | XP_006717996.1:p.Tyr782Cys | |
| XM_011540001.1:c.2012A>G | XP_011538303.1:p.Tyr671Cys | |
| NM_001323412.1:c.2012A>G | NP_001310341.1:p.Tyr671Cys | |
| NM_001323413.1:c.2345A>G | NP_001310342.1:p.Tyr782Cys | |
| NM_001323414.1:c.2345A>G | NP_001310343.1:p.Tyr782Cys | |
| NM_001323415.1:c.2339A>G | NP_001310344.1:p.Tyr780Cys | |
| NM_001323416.1:c.2012A>G | NP_001310345.1:p.Tyr671Cys | |
| NM_001323417.1:c.2240A>G | NP_001310346.1:p.Tyr747Cys | |
| NM_001323418.1:c.2006A>G | NP_001310347.1:p.Tyr669Cys | |
| NM_001323419.1:c.1709A>G | NP_001310348.1:p.Tyr570Cys | |
| XM_024448094.1:c.2447A>G | XP_024303862.1:p.Tyr816Cys | |
| XM_024448095.1:c.2447A>G | XP_024303863.1:p.Tyr816Cys | |
| XM_024448096.1:c.2441A>G | XP_024303864.1:p.Tyr814Cys | |
| XM_024448097.1:c.2114A>G | XP_024303865.1:p.Tyr705Cys | |
| NM_002860.4:c.2345A>G MANE Select | NP_002851.2:p.Tyr782Cys | |
| NM_001017423.2:c.2339A>G | NP_001017423.1:p.Tyr780Cys | |
| NM_001323412.2:c.2012A>G | NP_001310341.1:p.Tyr671Cys | |
| NM_001323413.2:c.2345A>G | NP_001310342.1:p.Tyr782Cys | |
| NM_001323414.2:c.2345A>G | NP_001310343.1:p.Tyr782Cys | |
| NM_001323415.2:c.2339A>G | NP_001310344.1:p.Tyr780Cys | |
| NM_001323416.2:c.2012A>G | NP_001310345.1:p.Tyr671Cys | |
| NM_001323417.2:c.2240A>G | NP_001310346.1:p.Tyr747Cys | |
| NM_001323418.2:c.2006A>G | NP_001310347.1:p.Tyr669Cys | |
| NM_001323419.2:c.1709A>G | NP_001310348.1:p.Tyr570Cys |