Linked Data
ClinVar Variation Id:
2111146
ClinVar RCV Id:
RCV003045853
dbSNP Id:
rs376237839
ExAC:
1:203681216 G / A
gnomAD v2:
1-203681216-G-A
gnomAD v3:
1-203712088-G-A
gnomAD v4:
1-203712088-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203712088G>A , CM000663.2:g.203712088G>A | GRCh38 |
| NC_000001.10:g.203681216G>A , CM000663.1:g.203681216G>A | GRCh37 |
| NC_000001.9:g.201947839G>A | NCBI36 |
| NG_029589.1:g.90302G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341360.7:c.2160G>A | ENSP00000340930.2:p.Leu720= | |
| ENST00000705901.1:c.2124G>A | ENSP00000516177.1:p.Leu708= | |
| ENST00000357681.10:c.2160G>A MANE Select | ENSP00000350310.5:p.Leu720= | |
| ENST00000341360.6:c.2160G>A | ENSP00000340930.2:p.Leu720= | |
| ENST00000357681.9:c.2160G>A | ENSP00000350310.5:p.Leu720= | |
| ENST00000367218.7:c.2160G>A | ENSP00000356187.3:p.Leu720= | |
| NM_001001396.2:c.2160G>A | NP_001001396.1:p.Leu720= | |
| NM_001684.4:c.2160G>A | NP_001675.3:p.Leu720= | |
| NM_001365783.1:c.2160G>A | NP_001352712.1:p.Leu720= | |
| NM_001365784.1:c.2160G>A | NP_001352713.1:p.Leu720= | |
| NM_001365783.2:c.2160G>A | NP_001352712.1:p.Leu720= | |
| NM_001684.5:c.2160G>A MANE Select | NP_001675.3:p.Leu720= | |
| NM_001001396.3:c.2160G>A | NP_001001396.1:p.Leu720= | |
| NM_001365784.2:c.2160G>A | NP_001352713.1:p.Leu720= |