Linked Data
ClinVar Variation Id:
599399
ClinVar RCV Id:
RCV000786044
dbSNP Id:
rs63751111
ExAC:
16:16248730 C / T
gnomAD v2:
16-16248730-C-T
gnomAD v4:
16-16154873-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154873C>T , CM000678.2:g.16154873C>T | GRCh38 |
| NC_000016.9:g.16248730C>T , CM000678.1:g.16248730C>T | GRCh37 |
| NC_000016.8:g.16156231C>T | NCBI36 |
| NG_007558.2:g.73599G>A | |
| NG_007558.3:g.73745G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.904G>A | ||
| ENST00000622290.5:c.*213G>A | ENSP00000483331.2:n.*213G>A | |
| ENST00000205557.12:c.4041G>A MANE Select | ENSP00000205557.7:p.Gln1347= | |
| ENST00000640696.1:c.855G>A | ENSP00000492197.1:p.Gln285= | |
| ENST00000205557.11:c.4041G>A | ENSP00000205557.7:p.Gln1347= | |
| ENST00000456970.6:c.3666G>A | ENSP00000405002.2:n.3666G>A | |
| ENST00000576204.5:n.904G>A | ||
| ENST00000622290.4:c.*1250G>A | ENSP00000483331.1:n.*1250G>A | |
| NM_001171.5:c.4041G>A | NP_001162.4:p.Gln1347= | |
| XM_011522479.1:c.4008G>A | XP_011520781.1:p.Gln1336= | |
| XM_011522480.1:c.3699G>A | XP_011520782.1:p.Gln1233= | |
| XM_011522481.1:c.3699G>A | XP_011520783.1:p.Gln1233= | |
| XR_933134.1:n.539-4908C>T | ||
| NM_001351800.1:c.3699G>A | NP_001338729.1:p.Gln1233= | |
| NR_147784.1:n.3703G>A | ||
| XM_011522479.2:c.4008G>A | XP_011520781.1:p.Gln1336= | |
| XM_011522481.3:c.3699G>A | XP_011520783.1:p.Gln1233= | |
| XM_017023212.1:c.3873G>A | XP_016878701.1:p.Gln1291= | |
| XM_024450261.1:c.4077G>A | XP_024306029.1:p.Gln1359= | |
| NM_001171.6:c.4041G>A MANE Select | NP_001162.5:p.Gln1347= |