Linked Data
ClinVar Variation Id:
715275
ClinVar RCV Id:
RCV000887717
dbSNP Id:
rs146414934
ExAC:
16:17232234 G / A
gnomAD v2:
16-17232234-G-A
gnomAD v3:
16-17138377-G-A
gnomAD v4:
16-17138377-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17138377G>A , CM000678.2:g.17138377G>A | GRCh38 |
| NC_000016.9:g.17232234G>A , CM000678.1:g.17232234G>A | GRCh37 |
| NC_000016.8:g.17139735G>A | NCBI36 |
| NG_015843.1:g.337505C>T | |
| NG_015843.2:g.337505C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261381.7:c.1742C>T MANE Select | ENSP00000261381.6:p.Pro581Leu | |
| ENST00000261381.6:c.1742C>T | ENSP00000261381.6:p.Pro581Leu | |
| NM_022166.3:c.1742C>T | NP_071449.1:p.Pro581Leu | |
| XM_011522574.1:c.1742C>T | XP_011520876.1:p.Pro581Leu | |
| XR_933141.1:n.310G>A | ||
| NR_135179.1:n.282G>A | ||
| XM_017023539.2:c.1742C>T | XP_016879028.1:p.Pro581Leu | |
| XM_017023540.2:c.1742C>T | XP_016879029.1:p.Pro581Leu | |
| NM_022166.4:c.1742C>T MANE Select | NP_071449.1:p.Pro581Leu |