Linked Data
ClinVar Variation Id:
2024195
ClinVar RCV Id:
RCV002863136
dbSNP Id:
rs771672843
ExAC:
16:2096180 A / T
gnomAD v2:
16-2096180-A-T
gnomAD v4:
16-2046179-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2046179A>T , CM000678.2:g.2046179A>T | GRCh38 |
| NC_000016.9:g.2096180A>T , CM000678.1:g.2096180A>T | GRCh37 |
| NC_000016.8:g.2036181A>T | NCBI36 |
| NG_005895.1:g.1874A>T , LRG_487:g.1874A>T | |
| NG_008412.1:g.6688T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651522.1:c.12T>A | ENSP00000498290.1:p.Pro4= | |
| ENST00000651570.2:c.303T>A MANE Select | ENSP00000498421.1:p.Pro101= | |
| ENST00000651583.1:c.258T>A | ENSP00000498821.1:p.Pro86= | |
| ENST00000219066.5:c.327T>A | ENSP00000219066.1:p.Pro109= | |
| ENST00000561841.1:c.223T>A | ||
| ENST00000562120.1:n.36T>A | ||
| ENST00000566380.5:c.266T>A | ||
| ENST00000568513.5:c.173+101T>A | ||
| NM_002528.5:c.327T>A | NP_002519.1:p.Pro109= | |
| XM_011522505.1:c.327T>A | XP_011520807.1:p.Pro109= | |
| NM_001318193.1:c.327T>A | NP_001305122.1:p.Pro109= | |
| NM_001318194.1:c.24+101T>A | NP_001305123.1:n.24+101T>A | |
| NM_002528.6:c.327T>A | NP_002519.1:p.Pro109= | |
| XM_017023253.1:c.327T>A | XP_016878742.1:p.Pro109= | |
| NM_001318193.2:c.303T>A | NP_001305122.2:p.Pro101= | |
| NM_002528.7:c.303T>A MANE Select | NP_002519.2:p.Pro101= | |
| NM_001318194.2:c.24+101T>A | NP_001305123.1:n.24+101T>A |