Linked Data
dbSNP Id:
rs2516739
gnomAD v2:
16-2097158-G-A
gnomAD v3:
16-2047157-G-A
gnomAD v4:
16-2047157-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2047157G>A , CM000678.2:g.2047157G>A | GRCh38 |
| NC_000016.9:g.2097158G>A , CM000678.1:g.2097158G>A | GRCh37 |
| NC_000016.8:g.2037159G>A | NCBI36 |
| NG_005895.1:g.2852G>A , LRG_487:g.2852G>A | |
| NG_008412.1:g.5710C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651570.2:c.115+552C>T MANE Select | ENSP00000498421.1:n.115+552C>T | |
| ENST00000651583.1:c.70+552C>T | ENSP00000498821.1:n.70+552C>T | |
| ENST00000219066.5:c.139+552C>T | ENSP00000219066.1:n.139+552C>T | |
| ENST00000561841.1:c.35+552C>T | ||
| ENST00000566380.5:c.78+552C>T | ||
| ENST00000568513.5:c.86+552C>T | ||
| ENST00000623977.1:n.691C>T | ||
| NM_002528.5:c.139+552C>T | NP_002519.1:n.139+552C>T | |
| XM_011522505.1:c.139+552C>T | XP_011520807.1:n.139+552C>T | |
| NM_001318193.1:c.139+552C>T | NP_001305122.1:n.139+552C>T | |
| NM_001318194.1:c.-64+552C>T | NP_001305123.1:n.-64+552C>T | |
| NM_002528.6:c.139+552C>T | NP_002519.1:n.139+552C>T | |
| XM_017023253.1:c.139+552C>T | XP_016878742.1:n.139+552C>T | |
| NM_001318193.2:c.115+552C>T | NP_001305122.2:n.115+552C>T | |
| NM_002528.7:c.115+552C>T MANE Select | NP_002519.2:n.115+552C>T | |
| NM_001318194.2:c.-64+552C>T | NP_001305123.1:n.-64+552C>T |