Linked Data
ClinVar Variation Id:
65562
dbSNP Id:
rs397515514
gnomAD v4:
4-1807261-G-T
PubMed:
PMID:20301540
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1807261G>T , CM000666.2:g.1807261G>T | GRCh38 |
| NC_000004.11:g.1808988G>T , CM000666.1:g.1808988G>T | GRCh37 |
| NC_000004.10:g.1778786G>T | NCBI36 |
| NG_012632.1:g.18950G>T , LRG_1021:g.18950G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340107.9:c.2426G>T | ENSP00000339824.4:p.Ter809Leu | |
| ENST00000260795.8:c.*1476G>T | ENSP00000260795.3:n.*1476G>T | |
| ENST00000352904.6:c.2084G>T | ENSP00000231803.1:p.Ter695Leu | |
| ENST00000412135.7:c.2408G>T | ENSP00000412903.3:p.Ter803Leu | |
| ENST00000440486.8:c.2420G>T MANE Select | ENSP00000414914.2:p.Ter807Leu | |
| ENST00000481110.7:c.2352G>T | ENSP00000420533.2:p.Val784= | |
| ENST00000260795.6:c.2420G>T | ENSP00000260795.2:p.Ter807Leu | |
| ENST00000340107.8:c.2426G>T | ENSP00000339824.4:p.Ter809Leu | |
| ENST00000352904.5:c.2084G>T | ENSP00000231803.1:p.Ter695Leu | |
| ENST00000412135.6:c.2084G>T | ENSP00000412903.2:p.Ter695Leu | |
| ENST00000440486.6:c.2420G>T | ENSP00000414914.2:p.Ter807Leu | |
| ENST00000481110.6:c.2352G>T | ENSP00000420533.2:p.Val784= | |
| ENST00000613647.4:c.*1476G>T | ENSP00000479472.1:n.*1476G>T | |
| NM_000142.4:c.2420G>T , LRG_1021t1:c.2420G>T | NP_000133.1:p.Ter807Leu | |
| NM_001163213.1:c.2426G>T , LRG_1021t2:c.2426G>T | NP_001156685.1:p.Ter809Leu | |
| NM_022965.3:c.2084G>T | NP_075254.1:p.Ter695Leu | |
| XM_006713868.1:c.2435G>T | XP_006713931.1:p.Ter812Leu | |
| XM_006713869.1:c.2432G>T | XP_006713932.1:p.Ter811Leu | |
| XM_006713870.1:c.2432G>T | XP_006713933.1:p.Ter811Leu | |
| XM_006713871.1:c.2429G>T | XP_006713934.1:p.Ter810Leu | |
| XM_006713872.1:c.2423G>T | XP_006713935.1:p.Ter808Leu | |
| XM_006713873.1:c.2423G>T | XP_006713936.1:p.Ter808Leu | |
| XM_011513420.1:c.2429G>T | XP_011511722.1:p.Ter810Leu | |
| XM_011513422.1:c.2426G>T | XP_011511724.1:p.Ter809Leu | |
| NM_001354809.1:c.2423G>T | NP_001341738.1:p.Ter808Leu | |
| NM_001354810.1:c.2352G>T | NP_001341739.1:p.Val784= | |
| NR_148971.1:n.2827G>T | ||
| NM_001354809.2:c.2423G>T | NP_001341738.1:p.Ter808Leu | |
| NM_001354810.2:c.2352G>T | NP_001341739.1:p.Val784= | |
| NR_148971.2:n.2846G>T | ||
| NM_000142.5:c.2420G>T MANE Select | NP_000133.1:p.Ter807Leu | |
| NM_001163213.2:c.2426G>T | NP_001156685.1:p.Ter809Leu | |
| NM_022965.4:c.2084G>T | NP_075254.1:p.Ter695Leu |