Linked Data
ClinVar Variation Id:
1160669
ClinVar RCV Id:
RCV001504858
dbSNP Id:
rs1272159852
gnomAD v3:
12-102840464-G-A
gnomAD v4:
12-102840464-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840464G>A , CM000674.2:g.102840464G>A | GRCh38 |
| NC_000012.11:g.103234242G>A , CM000674.1:g.103234242G>A | GRCh37 |
| NC_000012.10:g.101758372G>A | NCBI36 |
| NG_008690.1:g.82139C>T | |
| NG_008690.2:g.122947C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1251C>T MANE Select | ENSP00000448059.1:p.Tyr417= | |
| ENST00000307000.7:c.1236C>T | ENSP00000303500.2:p.Tyr412= | |
| ENST00000551114.2:n.913C>T | ||
| ENST00000553106.5:c.1251C>T | ENSP00000448059.1:p.Tyr417= | |
| ENST00000635477.1:c.355C>T | ||
| ENST00000635528.1:n.766C>T | ||
| NM_000277.1:c.1251C>T | NP_000268.1:p.Tyr417= | |
| XM_011538422.1:c.1194C>T | XP_011536724.1:p.Tyr398= | |
| NM_000277.2:c.1251C>T | NP_000268.1:p.Tyr417= | |
| NM_001354304.1:c.1251C>T | NP_001341233.1:p.Tyr417= | |
| NM_000277.3:c.1251C>T MANE Select | NP_000268.1:p.Tyr417= | |
| NM_001354304.2:c.1251C>T | NP_001341233.1:p.Tyr417= |