Linked Data
ClinVar Variation Id:
1917510
ClinVar RCV Id:
RCV002598321
dbSNP Id:
rs2143312859
gnomAD v4:
17-39727937-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727937T>C , CM000679.2:g.39727937T>C | GRCh38 |
| NC_000017.10:g.37884190T>C , CM000679.1:g.37884190T>C | GRCh37 |
| NC_000017.9:g.35137716T>C | NCBI36 |
| NG_007503.1:g.44798T>C , LRG_724:g.44798T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3661T>C MANE Select | ENSP00000269571.4:p.Tyr1221His | |
| ENST00000269571.9:c.3661T>C | ENSP00000269571.4:p.Tyr1221His | |
| ENST00000406381.6:c.3571T>C | ENSP00000385185.2:p.Tyr1191His | |
| ENST00000445658.6:c.2833T>C | ENSP00000404047.2:p.Tyr945His | |
| ENST00000541774.5:c.3616T>C | ENSP00000446466.1:p.Tyr1206His | |
| ENST00000578373.5:c.*3451T>C | ENSP00000463427.1:n.*3451T>C | |
| ENST00000584450.5:c.*240T>C | ENSP00000463714.1:n.*240T>C | |
| ENST00000584601.5:c.3571T>C | ENSP00000462438.1:p.Tyr1191His | |
| NM_001005862.2:c.3571T>C , LRG_724t1:c.3571T>C | NP_001005862.1:p.Tyr1191His | |
| NM_001289936.1:c.3616T>C , LRG_724t4:c.3616T>C | NP_001276865.1:p.Tyr1206His | |
| NM_001289937.1:c.*240T>C | NP_001276866.1:n.*240T>C | |
| NM_004448.3:c.3661T>C , LRG_724t2:c.3661T>C | NP_004439.2:p.Tyr1221His | |
| NR_110535.1:n.3985T>C | ||
| XM_024450641.1:c.3799T>C | XP_024306409.1:p.Tyr1267His | |
| XM_024450642.1:c.3754T>C | XP_024306410.1:p.Tyr1252His | |
| XM_024450643.1:c.3709T>C | XP_024306411.1:p.Tyr1237His | |
| NM_001005862.3:c.3571T>C | NP_001005862.1:p.Tyr1191His | |
| NM_001289936.2:c.3616T>C | NP_001276865.1:p.Tyr1206His | |
| NM_001289937.2:c.*240T>C | NP_001276866.1:n.*240T>C | |
| NM_001382782.1:c.3571T>C | NP_001369711.1:p.Tyr1191His | |
| NM_001382783.1:c.3571T>C | NP_001369712.1:p.Tyr1191His | |
| NM_001382784.1:c.3778T>C | NP_001369713.1:p.Tyr1260His | |
| NM_001382785.1:c.3763T>C | NP_001369714.1:p.Tyr1255His | |
| NM_001382786.1:c.3742T>C | NP_001369715.1:p.Tyr1248His | |
| NM_001382787.1:c.3736T>C | NP_001369716.1:p.Tyr1246His | |
| NM_001382788.1:c.3691T>C | NP_001369717.1:p.Tyr1231His | |
| NM_001382789.1:c.3682T>C | NP_001369718.1:p.Tyr1228His | |
| NM_001382790.1:c.3658T>C | NP_001369719.1:p.Tyr1220His | |
| NM_001382791.1:c.3652T>C | NP_001369720.1:p.Tyr1218His | |
| NM_001382792.1:c.3625T>C | NP_001369721.1:p.Tyr1209His | |
| NM_001382793.1:c.3619T>C | NP_001369722.1:p.Tyr1207His | |
| NM_001382794.1:c.3619T>C | NP_001369723.1:p.Tyr1207His | |
| NM_001382795.1:c.3613T>C | NP_001369724.1:p.Tyr1205His | |
| NM_001382796.1:c.3574T>C | NP_001369725.1:p.Tyr1192His | |
| NM_001382797.1:c.3562T>C | NP_001369726.1:p.Tyr1188His | |
| NM_001382798.1:c.3505T>C | NP_001369727.1:p.Tyr1169His | |
| NM_001382799.1:c.3481T>C | NP_001369728.1:p.Tyr1161His | |
| NM_001382800.1:c.3475T>C | NP_001369729.1:p.Tyr1159His | |
| NM_001382801.1:c.3457T>C | NP_001369730.1:p.Tyr1153His | |
| NM_001382802.1:c.3403T>C | NP_001369731.1:p.Tyr1135His | |
| NM_001382803.1:c.*240T>C | NP_001369732.1:n.*240T>C | |
| NM_001382804.1:c.2833T>C | NP_001369733.1:p.Tyr945His | |
| NM_001382805.1:c.2710T>C | NP_001369734.1:p.Tyr904His | |
| NM_001382806.1:c.2623T>C | NP_001369735.1:p.Tyr875His | |
| NM_004448.4:c.3661T>C MANE Select | NP_004439.2:p.Tyr1221His | |
| NR_110535.2:n.3899T>C |