Linked Data
ClinVar Variation Id:
2843493
ClinVar RCV Id:
RCV003621183
MyVariant Identifiers:
chr16:g.8891787C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797930C>A , CM000678.2:g.8797930C>A | GRCh38 |
| NC_000016.9:g.8891787C>A , CM000678.1:g.8891787C>A | GRCh37 |
| NC_000016.8:g.8799288C>A | NCBI36 |
| NG_009209.1:g.5118C>A | |
| NG_033146.1:g.4719G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682008.1:c.48C>A | ENSP00000507849.1:p.Thr16= | |
| ENST00000682393.1:c.48C>A | ENSP00000506774.1:p.Thr16= | |
| ENST00000683094.1:c.48C>A | ENSP00000508230.1:p.Thr16= | |
| ENST00000683274.1:c.48C>A | ENSP00000507262.1:p.Thr16= | |
| ENST00000683435.1:c.48C>A | ENSP00000508092.1:p.Thr16= | |
| ENST00000268261.9:c.48C>A MANE Select | ENSP00000268261.4:p.Thr16= | |
| ENST00000268261.8:c.48C>A | ENSP00000268261.4:p.Thr16= | |
| ENST00000562318.5:c.48C>A | ENSP00000454395.1:p.Thr16= | |
| ENST00000562448.1:n.89C>A | ||
| ENST00000564030.5:n.110C>A | ||
| ENST00000564069.1:c.19C>A | ||
| ENST00000565221.5:c.48C>A | ENSP00000457932.1:p.Thr16= | |
| ENST00000565896.5:c.48C>A | ENSP00000456024.1:p.Thr16= | |
| ENST00000566196.5:n.92C>A | ||
| ENST00000566540.5:c.48C>A | ENSP00000454284.1:p.Thr16= | |
| ENST00000566604.5:c.48C>A | ENSP00000456774.1:p.Thr16= | |
| ENST00000566983.5:c.-15-3869C>A | ENSP00000457956.1:n.-15-3869C>A | |
| ENST00000568602.5:c.48C>A | ENSP00000455066.1:p.Thr16= | |
| ENST00000569958.5:c.48C>A | ENSP00000456302.1:p.Thr16= | |
| ENST00000570076.5:c.48C>A | ENSP00000456961.1:p.Thr16= | |
| ENST00000570134.5:c.48C>A | ENSP00000456275.1:p.Thr16= | |
| NM_000303.2:c.48C>A | NP_000294.1:p.Thr16= | |
| XM_005255372.3:c.48C>A | XP_005255429.1:p.Thr16= | |
| XM_005255373.3:c.-125C>A | XP_005255430.1:n.-125C>A | |
| XM_005255374.3:c.-125C>A | XP_005255431.1:n.-125C>A | |
| XM_011522538.1:c.48C>A | XP_011520840.1:p.Thr16= | |
| XM_005255374.4:c.-125C>A | XP_005255431.1:n.-125C>A | |
| NM_000303.3:c.48C>A MANE Select | NP_000294.1:p.Thr16= |