Linked Data
ClinVar Variation Id:
120282
ClinVar RCV Id:
RCV000106363
dbSNP Id:
rs62514928
ExAC:
12:103249008 A / G
gnomAD v2:
12-103249008-A-G
gnomAD v3:
12-102855230-A-G
gnomAD v4:
12-102855230-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855230A>G , CM000674.2:g.102855230A>G | GRCh38 |
| NC_000012.11:g.103249008A>G , CM000674.1:g.103249008A>G | GRCh37 |
| NC_000012.10:g.101773138A>G | NCBI36 |
| NG_008690.1:g.67373T>C | |
| NG_008690.2:g.108181T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.612T>C MANE Select | ENSP00000448059.1:p.Tyr204= | |
| ENST00000307000.7:c.597T>C | ENSP00000303500.2:p.Tyr199= | |
| ENST00000549111.5:n.708T>C | ||
| ENST00000553106.5:c.612T>C | ENSP00000448059.1:p.Tyr204= | |
| NM_000277.1:c.612T>C | NP_000268.1:p.Tyr204= | |
| XM_011538422.1:c.612T>C | XP_011536724.1:p.Tyr204= | |
| NM_000277.2:c.612T>C | NP_000268.1:p.Tyr204= | |
| NM_001354304.1:c.612T>C | NP_001341233.1:p.Tyr204= | |
| XM_017019370.2:c.612T>C | XP_016874859.1:p.Tyr204= | |
| NM_000277.3:c.612T>C MANE Select | NP_000268.1:p.Tyr204= | |
| NM_001354304.2:c.612T>C | NP_001341233.1:p.Tyr204= |