Linked Data
ClinVar Variation Id:
2892122
ClinVar RCV Id:
RCV003638496
dbSNP Id:
rs149006854
ExAC:
1:173878720 G / T
gnomAD v2:
1-173878720-G-T
gnomAD v3:
1-173909582-G-T
gnomAD v4:
1-173909582-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909582G>T , CM000663.2:g.173909582G>T | GRCh38 |
| NC_000001.10:g.173878720G>T , CM000663.1:g.173878720G>T | GRCh37 |
| NC_000001.9:g.172145343G>T | NCBI36 |
| NG_012462.1:g.12797C>A , LRG_577:g.12797C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1123C>A MANE Select | ENSP00000356671.3:p.Leu375Met | |
| ENST00000367698.3:c.1123C>A | ENSP00000356671.3:p.Leu375Met | |
| ENST00000617423.4:c.560-2089C>A | ENSP00000478688.1:n.560-2089C>A | |
| NM_000488.3:c.1123C>A , LRG_577t1:c.1123C>A | NP_000479.1:p.Leu375Met | |
| XM_005245198.2:c.979C>A | XP_005245255.1:p.Leu327Met | |
| NM_001365052.1:c.979C>A | NP_001351981.1:p.Leu327Met | |
| NM_000488.4:c.1123C>A MANE Select | NP_000479.1:p.Leu375Met | |
| NM_001365052.2:c.979C>A | NP_001351981.1:p.Leu327Met | |
| NM_001386302.1:c.1246C>A | NP_001373231.1:p.Leu416Met | |
| NM_001386303.1:c.1204C>A | NP_001373232.1:p.Leu402Met | |
| NM_001386304.1:c.1102C>A | NP_001373233.1:p.Leu368Met | |
| NM_001386305.1:c.1066C>A | NP_001373234.1:p.Leu356Met | |
| NM_001386306.1:c.907C>A | NP_001373235.1:p.Leu303Met |