Linked Data
ClinVar Variation Id:
2177679
ClinVar RCV Id:
RCV002585663
dbSNP Id:
rs759027000
ExAC:
3:122003764 C / T
gnomAD v2:
3-122003764-C-T
gnomAD v4:
3-122284917-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122284917C>T , CM000665.2:g.122284917C>T | GRCh38 |
| NC_000003.11:g.122003764C>T , CM000665.1:g.122003764C>T | GRCh37 |
| NC_000003.10:g.123486454C>T | NCBI36 |
| NG_009058.1:g.106235C>T | |
| NG_009058.2:g.106250C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000490131.7:c.2732C>T | ENSP00000418685.2:p.Ala911Val | |
| ENST00000498619.4:c.2993C>T | ENSP00000420194.1:p.Ala998Val | |
| ENST00000638421.1:c.2963C>T | ENSP00000492190.1:p.Ala988Val | |
| ENST00000639785.2:c.2963C>T MANE Select | ENSP00000491584.2:p.Ala988Val | |
| ENST00000490131.5:c.2963C>T | ENSP00000418685.1:p.Ala988Val | |
| ENST00000498619.2:c.2993C>T | ENSP00000420194.1:p.Ala998Val | |
| NM_000388.3:c.2963C>T | NP_000379.2:p.Ala988Val | |
| NM_001178065.1:c.2993C>T | NP_001171536.1:p.Ala998Val | |
| XM_005247836.2:c.2963C>T | XP_005247893.1:p.Ala988Val | |
| XM_005247837.2:c.2480C>T | XP_005247894.1:p.Ala827Val | |
| XM_006713789.2:c.2963C>T | XP_006713852.1:p.Ala988Val | |
| XM_011513237.1:c.2963C>T | XP_011511539.1:p.Ala988Val | |
| XM_011513238.1:c.2963C>T | XP_011511540.1:p.Ala988Val | |
| XM_011513239.1:c.2375C>T | XP_011511541.1:p.Ala792Val | |
| XM_006713789.3:c.2963C>T | XP_006713852.1:p.Ala988Val | |
| XM_017007324.1:c.2963C>T | XP_016862813.1:p.Ala988Val | |
| XM_017007325.1:c.2963C>T | XP_016862814.1:p.Ala988Val | |
| NM_000388.4:c.2963C>T MANE Select | NP_000379.3:p.Ala988Val | |
| NM_001178065.2:c.2993C>T | NP_001171536.2:p.Ala998Val |