Linked Data
ClinVar Variation Id:
741623
ClinVar RCV Id:
RCV000917800
dbSNP Id:
rs763944822
gnomAD v3:
16-8811121-C-T
gnomAD v4:
16-8811121-C-T
MyVariant Identifiers:
chr16:g.8904978C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8811121C>T , CM000678.2:g.8811121C>T | GRCh38 |
| NC_000016.9:g.8904978C>T , CM000678.1:g.8904978C>T | GRCh37 |
| NC_000016.8:g.8812479C>T | NCBI36 |
| NG_009209.1:g.18309C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567697.2:n.3558C>T | ||
| ENST00000682008.1:c.390C>T | ENSP00000507849.1:p.Ser130= | |
| ENST00000682393.1:c.*8C>T | ENSP00000506774.1:n.*8C>T | |
| ENST00000683094.1:c.*70-517C>T | ENSP00000508230.1:n.*70-517C>T | |
| ENST00000683274.1:c.348-517C>T | ENSP00000507262.1:n.348-517C>T | |
| ENST00000683435.1:c.*344-517C>T | ENSP00000508092.1:n.*344-517C>T | |
| ENST00000268261.9:c.390C>T MANE Select | ENSP00000268261.4:p.Ser130= | |
| ENST00000268261.8:c.390C>T | ENSP00000268261.4:p.Ser130= | |
| ENST00000562318.5:c.*112C>T | ENSP00000454395.1:n.*112C>T | |
| ENST00000564069.1:c.361C>T | ||
| ENST00000565221.5:c.*8C>T | ENSP00000457932.1:n.*8C>T | |
| ENST00000565896.5:c.*188C>T | ENSP00000456024.1:n.*188C>T | |
| ENST00000566540.5:c.*70-517C>T | ENSP00000454284.1:n.*70-517C>T | |
| ENST00000566604.5:c.348-517C>T | ENSP00000456774.1:n.348-517C>T | |
| ENST00000566983.5:c.309C>T | ENSP00000457956.1:p.Ser103= | |
| ENST00000567697.1:n.3558C>T | ||
| ENST00000569958.5:c.179-521C>T | ENSP00000456302.1:n.179-521C>T | |
| ENST00000570076.5:c.179-517C>T | ENSP00000456961.1:n.179-517C>T | |
| ENST00000570134.5:c.*70-517C>T | ENSP00000456275.1:n.*70-517C>T | |
| NM_000303.2:c.390C>T | NP_000294.1:p.Ser130= | |
| XM_005255372.3:c.390C>T | XP_005255429.1:p.Ser130= | |
| XM_005255373.3:c.141C>T | XP_005255430.1:p.Ser47= | |
| XM_005255374.3:c.141C>T | XP_005255431.1:p.Ser47= | |
| XM_011522538.1:c.390C>T | XP_011520840.1:p.Ser130= | |
| XM_011522539.1:c.15C>T | XP_011520841.1:p.Ser5= | |
| XM_005255374.4:c.141C>T | XP_005255431.1:p.Ser47= | |
| NM_000303.3:c.390C>T MANE Select | NP_000294.1:p.Ser130= |