Linked Data
ClinVar Variation Id:
2777029
ClinVar RCV Id:
RCV003598196
dbSNP Id:
rs753517047
ExAC:
16:17232199 G / A
gnomAD v2:
16-17232199-G-A
gnomAD v3:
16-17138342-G-A
gnomAD v4:
16-17138342-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17138342G>A , CM000678.2:g.17138342G>A | GRCh38 |
| NC_000016.9:g.17232199G>A , CM000678.1:g.17232199G>A | GRCh37 |
| NC_000016.8:g.17139700G>A | NCBI36 |
| NG_015843.1:g.337540C>T | |
| NG_015843.2:g.337540C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261381.7:c.1764+13C>T MANE Select | ENSP00000261381.6:n.1764+13C>T | |
| ENST00000261381.6:c.1764+13C>T | ENSP00000261381.6:n.1764+13C>T | |
| NM_022166.3:c.1764+13C>T | NP_071449.1:n.1764+13C>T | |
| XM_011522574.1:c.1764+13C>T | XP_011520876.1:n.1764+13C>T | |
| XR_933140.1:n.436G>A | ||
| XR_933141.1:n.275G>A | ||
| XR_933143.1:n.337G>A | ||
| NR_135179.1:n.247G>A | ||
| XM_017023539.2:c.1764+13C>T | XP_016879028.1:n.1764+13C>T | |
| XM_017023540.2:c.1764+13C>T | XP_016879029.1:n.1764+13C>T | |
| NM_022166.4:c.1764+13C>T MANE Select | NP_071449.1:n.1764+13C>T |