Linked Data
ClinVar Variation Id:
3058843
ClinVar RCV Id:
RCV003979481
dbSNP Id:
rs34818467
ExAC:
17:56643109 A / G
gnomAD v2:
17-56643109-A-G
gnomAD v3:
17-58565748-A-G
gnomAD v4:
17-58565748-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58565748A>G , CM000679.2:g.58565748A>G | GRCh38 |
| NC_000017.10:g.56643109A>G , CM000679.1:g.56643109A>G | GRCh37 |
| NC_000017.9:g.53998108A>G | NCBI36 |
| NG_047169.1:g.131332T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349033.10:c.3963T>C MANE Select | ENSP00000268910.8:p.Asn1321= | |
| ENST00000240361.12:c.4101T>C | ENSP00000240361.8:p.Asn1367= | |
| ENST00000349033.9:c.3963T>C | ENSP00000268910.8:p.Asn1321= | |
| ENST00000389934.7:c.4083T>C | ENSP00000374584.3:p.Asn1361= | |
| ENST00000582740.1:c.*3801T>C | ENSP00000463593.1:n.*3801T>C | |
| NM_001201457.1:c.4101T>C | NP_001188386.1:p.Asn1367= | |
| NM_031272.4:c.3963T>C | NP_112562.3:p.Asn1321= | |
| NM_198393.3:c.4083T>C | NP_938207.2:p.Asn1361= | |
| XM_011525028.1:c.4206T>C | XP_011523330.1:p.Asn1402= | |
| XM_011525029.1:c.4206T>C | XP_011523331.1:p.Asn1402= | |
| XM_011525030.1:c.4203T>C | XP_011523332.1:p.Asn1401= | |
| XM_011525031.1:c.4137T>C | XP_011523333.1:p.Asn1379= | |
| XM_011525032.1:c.3969T>C | XP_011523334.1:p.Asn1323= | |
| XM_011525033.1:c.2907T>C | XP_011523335.1:p.Asn969= | |
| XM_011525029.3:c.4206T>C | XP_011523331.1:p.Asn1402= | |
| XM_017024861.1:c.2907T>C | XP_016880350.1:p.Asn969= | |
| NM_001201457.2:c.4101T>C | NP_001188386.1:p.Asn1367= | |
| NM_031272.5:c.3963T>C MANE Select | NP_112562.3:p.Asn1321= | |
| NM_198393.4:c.4083T>C | NP_938207.2:p.Asn1361= |