Linked Data
ClinVar Variation Id:
2772271
ClinVar RCV Id:
RCV003510944
MyVariant Identifiers:
chr16:g.8900211T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8806354T>C , CM000678.2:g.8806354T>C | GRCh38 |
| NC_000016.9:g.8900211T>C , CM000678.1:g.8900211T>C | GRCh37 |
| NC_000016.8:g.8807712T>C | NCBI36 |
| NG_009209.1:g.13542T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682008.1:c.294T>C | ENSP00000507849.1:p.Asp98= | |
| ENST00000682393.1:c.178+4444T>C | ENSP00000506774.1:n.178+4444T>C | |
| ENST00000683094.1:c.*16T>C | ENSP00000508230.1:n.*16T>C | |
| ENST00000683274.1:c.294T>C | ENSP00000507262.1:p.Asp98= | |
| ENST00000683435.1:c.*290T>C | ENSP00000508092.1:n.*290T>C | |
| ENST00000268261.9:c.294T>C MANE Select | ENSP00000268261.4:p.Asp98= | |
| ENST00000268261.8:c.294T>C | ENSP00000268261.4:p.Asp98= | |
| ENST00000562318.5:c.*16T>C | ENSP00000454395.1:n.*16T>C | |
| ENST00000562448.1:n.258T>C | ||
| ENST00000564030.5:n.356T>C | ||
| ENST00000564069.1:c.265T>C | ||
| ENST00000565221.5:c.178+4444T>C | ENSP00000457932.1:n.178+4444T>C | |
| ENST00000565896.5:c.*145+3965T>C | ENSP00000456024.1:n.*145+3965T>C | |
| ENST00000566540.5:c.*16T>C | ENSP00000454284.1:n.*16T>C | |
| ENST00000566604.5:c.294T>C | ENSP00000456774.1:p.Asp98= | |
| ENST00000566983.5:c.213T>C | ENSP00000457956.1:p.Asp71= | |
| ENST00000568602.5:c.*147T>C | ENSP00000455066.1:n.*147T>C | |
| ENST00000569958.5:c.178+4444T>C | ENSP00000456302.1:n.178+4444T>C | |
| ENST00000570076.5:c.178+4444T>C | ENSP00000456961.1:n.178+4444T>C | |
| ENST00000570134.5:c.*16T>C | ENSP00000456275.1:n.*16T>C | |
| NM_000303.2:c.294T>C | NP_000294.1:p.Asp98= | |
| XM_005255372.3:c.294T>C | XP_005255429.1:p.Asp98= | |
| XM_005255373.3:c.45T>C | XP_005255430.1:p.Asp15= | |
| XM_005255374.3:c.45T>C | XP_005255431.1:p.Asp15= | |
| XM_011522538.1:c.294T>C | XP_011520840.1:p.Asp98= | |
| XM_011522539.1:c.-29+4444T>C | XP_011520841.1:n.-29+4444T>C | |
| XM_005255374.4:c.45T>C | XP_005255431.1:p.Asp15= | |
| NM_000303.3:c.294T>C MANE Select | NP_000294.1:p.Asp98= |