Linked Data
ClinVar Variation Id:
2024092
ClinVar RCV Id:
RCV002863057
dbSNP Id:
rs1435605964
gnomAD v2:
1-173878967-A-G
gnomAD v4:
1-173909829-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909829A>G , CM000663.2:g.173909829A>G | GRCh38 |
| NC_000001.10:g.173878967A>G , CM000663.1:g.173878967A>G | GRCh37 |
| NC_000001.9:g.172145590A>G | NCBI36 |
| NG_012462.1:g.12550T>C , LRG_577:g.12550T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.876T>C MANE Select | ENSP00000356671.3:p.Tyr292= | |
| ENST00000367698.3:c.876T>C | ENSP00000356671.3:p.Tyr292= | |
| ENST00000487183.1:n.527T>C | ||
| ENST00000617423.4:c.559+2035T>C | ENSP00000478688.1:n.559+2035T>C | |
| NM_000488.3:c.876T>C , LRG_577t1:c.876T>C | NP_000479.1:p.Tyr292= | |
| XM_005245198.2:c.732T>C | XP_005245255.1:p.Tyr244= | |
| NM_001365052.1:c.732T>C | NP_001351981.1:p.Tyr244= | |
| NM_000488.4:c.876T>C MANE Select | NP_000479.1:p.Tyr292= | |
| NM_001365052.2:c.732T>C | NP_001351981.1:p.Tyr244= | |
| NM_001386302.1:c.999T>C | NP_001373231.1:p.Tyr333= | |
| NM_001386303.1:c.957T>C | NP_001373232.1:p.Tyr319= | |
| NM_001386304.1:c.855T>C | NP_001373233.1:p.Tyr285= | |
| NM_001386305.1:c.819T>C | NP_001373234.1:p.Tyr273= | |
| NM_001386306.1:c.660T>C | NP_001373235.1:p.Tyr220= |