Linked Data
ClinVar Variation Id:
1110731
ClinVar RCV Id:
RCV001437045
dbSNP Id:
rs199819126
gnomAD v4:
7-100633520-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100633520G>A , CM000669.2:g.100633520G>A | GRCh38 |
| NC_000007.13:g.100231143G>A , CM000669.1:g.100231143G>A | GRCh37 |
| NC_000007.12:g.100069079G>A | NCBI36 |
| NG_007989.1:g.13031C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.510C>T MANE Select | ENSP00000223051.3:p.Ala170= | |
| ENST00000223051.7:c.510C>T | ENSP00000223051.3:p.Ala170= | |
| ENST00000431692.5:c.510C>T | ENSP00000413905.1:p.Ala170= | |
| ENST00000462107.1:c.510C>T | ENSP00000420525.1:p.Ala170= | |
| ENST00000465294.5:n.515C>T | ||
| ENST00000475011.1:n.39C>T | ||
| ENST00000476304.5:n.131C>T | ||
| NM_001206855.1:c.-4C>T | NP_001193784.1:n.-4C>T | |
| NM_003227.3:c.510C>T | NP_003218.2:p.Ala170= | |
| XM_005250553.3:c.510C>T | XP_005250610.1:p.Ala170= | |
| XM_005250554.3:c.510C>T | XP_005250611.1:p.Ala170= | |
| NM_001206855.2:c.-4C>T | NP_001193784.1:n.-4C>T | |
| XM_005250553.4:c.510C>T | XP_005250610.1:p.Ala170= | |
| XM_017012573.1:c.510C>T | XP_016868062.1:p.Ala170= | |
| NM_003227.4:c.510C>T MANE Select | NP_003218.2:p.Ala170= | |
| NM_001206855.3:c.-4C>T | NP_001193784.1:n.-4C>T |