Linked Data
ClinVar Variation Id:
237251
dbSNP Id:
rs878853762
gnomAD v3:
4-54728078-T-C
gnomAD v4:
4-54728078-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54728078T>C , CM000666.2:g.54728078T>C | GRCh38 |
| NC_000004.11:g.55594244T>C , CM000666.1:g.55594244T>C | GRCh37 |
| NC_000004.10:g.55289001T>C | NCBI36 |
| NG_007456.1:g.75084T>C , LRG_307:g.75084T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412167.7:c.1938T>C | ENSP00000390987.3:p.Asn646= | |
| ENST00000685269.1:n.2025T>C | ||
| ENST00000686011.1:c.1935T>C | ENSP00000509704.1:p.Asn645= | |
| ENST00000687109.1:c.1950T>C | ENSP00000509371.1:p.Asn650= | |
| ENST00000687208.1:n.2362T>C | ||
| ENST00000687246.1:c.1935T>C | ENSP00000509114.1:p.Asn645= | |
| ENST00000687265.1:n.2105T>C | ||
| ENST00000687295.1:c.1935T>C | ENSP00000509450.1:p.Asn645= | |
| ENST00000689832.1:c.1950T>C | ENSP00000509084.1:p.Asn650= | |
| ENST00000689994.1:c.1437T>C | ENSP00000509156.1:p.Asn479= | |
| ENST00000690543.1:c.1938T>C | ENSP00000508831.1:p.Asn646= | |
| ENST00000690917.1:n.2165T>C | ||
| ENST00000691361.1:n.857T>C | ||
| ENST00000692783.1:c.1947T>C | ENSP00000508733.1:p.Asn649= | |
| ENST00000692991.1:n.2044T>C | ||
| ENST00000288135.6:c.1947T>C MANE Select | ENSP00000288135.6:p.Asn649= | |
| ENST00000288135.5:c.1947T>C | ENSP00000288135.5:p.Asn649= | |
| ENST00000412167.6:c.1935T>C | ENSP00000390987.2:p.Asn645= | |
| NM_000222.2:c.1947T>C , LRG_307t1:c.1947T>C | NP_000213.1:p.Asn649= | |
| NM_001093772.1:c.1935T>C | NP_001087241.1:p.Asn645= | |
| XM_005265740.1:c.1950T>C | XP_005265797.1:p.Asn650= | |
| XM_005265741.1:c.1950T>C | XP_005265798.1:p.Asn650= | |
| XM_005265742.1:c.1938T>C | XP_005265799.1:p.Asn646= | |
| XM_005265742.3:c.1938T>C | XP_005265799.1:p.Asn646= | |
| XM_017008178.1:c.1947T>C | XP_016863667.1:p.Asn649= | |
| XM_017008179.1:c.1938T>C | XP_016863668.1:p.Asn646= | |
| XM_017008180.1:c.1935T>C | XP_016863669.1:p.Asn645= | |
| NM_000222.3:c.1947T>C MANE Select | NP_000213.1:p.Asn649= | |
| NM_001093772.2:c.1935T>C | NP_001087241.1:p.Asn645= | |
| NM_001385284.1:c.1950T>C | NP_001372213.1:p.Asn650= | |
| NM_001385285.1:c.1947T>C | NP_001372214.1:p.Asn649= | |
| NM_001385286.1:c.1935T>C | NP_001372215.1:p.Asn645= | |
| NM_001385288.1:c.1938T>C | NP_001372217.1:p.Asn646= | |
| NM_001385290.1:c.1950T>C | NP_001372219.1:p.Asn650= | |
| NM_001385292.1:c.1938T>C | NP_001372221.1:p.Asn646= |