Linked Data
ClinVar Variation Id:
1733200
ClinVar RCV Id:
RCV002455313
gnomAD v4:
16-2046146-G-A
MyVariant Identifiers:
chr16:g.2096147G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2046146G>A , CM000678.2:g.2046146G>A | GRCh38 |
| NC_000016.9:g.2096147G>A , CM000678.1:g.2096147G>A | GRCh37 |
| NC_000016.8:g.2036148G>A | NCBI36 |
| NG_005895.1:g.1841G>A , LRG_487:g.1841G>A | |
| NG_008412.1:g.6721C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651522.1:c.45C>T | ENSP00000498290.1:p.Asp15= | |
| ENST00000651570.2:c.336C>T MANE Select | ENSP00000498421.1:p.Asp112= | |
| ENST00000651583.1:c.291C>T | ENSP00000498821.1:p.Asp97= | |
| ENST00000219066.5:c.360C>T | ENSP00000219066.1:p.Asp120= | |
| ENST00000561841.1:c.256C>T | ||
| ENST00000562120.1:n.69C>T | ||
| ENST00000566380.5:c.299C>T | ||
| ENST00000568513.5:c.173+134C>T | ||
| NM_002528.5:c.360C>T | NP_002519.1:p.Asp120= | |
| XM_011522505.1:c.360C>T | XP_011520807.1:p.Asp120= | |
| NM_001318193.1:c.360C>T | NP_001305122.1:p.Asp120= | |
| NM_001318194.1:c.24+134C>T | NP_001305123.1:n.24+134C>T | |
| NM_002528.6:c.360C>T | NP_002519.1:p.Asp120= | |
| XM_017023253.1:c.360C>T | XP_016878742.1:p.Asp120= | |
| NM_001318193.2:c.336C>T | NP_001305122.2:p.Asp112= | |
| NM_002528.7:c.336C>T MANE Select | NP_002519.2:p.Asp112= | |
| NM_001318194.2:c.24+134C>T | NP_001305123.1:n.24+134C>T |