Linked Data
ClinVar Variation Id:
2086141
ClinVar RCV Id:
RCV002996550
dbSNP Id:
rs147823561
ExAC:
4:1807187 C / T
gnomAD v2:
4-1807187-C-T
gnomAD v3:
4-1805460-C-T
gnomAD v4:
4-1805460-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1805460C>T , CM000666.2:g.1805460C>T | GRCh38 |
| NC_000004.11:g.1807187C>T , CM000666.1:g.1807187C>T | GRCh37 |
| NC_000004.10:g.1776985C>T | NCBI36 |
| NG_012632.1:g.17149C>T , LRG_1021:g.17149C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340107.9:c.1524C>T | ENSP00000339824.4:p.Ala508= | |
| ENST00000260795.8:c.*574C>T | ENSP00000260795.3:n.*574C>T | |
| ENST00000352904.6:c.1182C>T | ENSP00000231803.1:p.Ala394= | |
| ENST00000412135.7:c.1506C>T | ENSP00000412903.3:p.Ala502= | |
| ENST00000440486.8:c.1518C>T MANE Select | ENSP00000414914.2:p.Ala506= | |
| ENST00000481110.7:c.1521C>T | ENSP00000420533.2:p.Ala507= | |
| ENST00000260795.6:c.1518C>T | ENSP00000260795.2:p.Ala506= | |
| ENST00000340107.8:c.1524C>T | ENSP00000339824.4:p.Ala508= | |
| ENST00000352904.5:c.1182C>T | ENSP00000231803.1:p.Ala394= | |
| ENST00000412135.6:c.1182C>T | ENSP00000412903.2:p.Ala394= | |
| ENST00000440486.6:c.1518C>T | ENSP00000414914.2:p.Ala506= | |
| ENST00000469068.1:n.584C>T | ||
| ENST00000481110.6:c.1521C>T | ENSP00000420533.2:p.Ala507= | |
| ENST00000613647.4:c.*574C>T | ENSP00000479472.1:n.*574C>T | |
| NM_000142.4:c.1518C>T , LRG_1021t1:c.1518C>T | NP_000133.1:p.Ala506= | |
| NM_001163213.1:c.1524C>T , LRG_1021t2:c.1524C>T | NP_001156685.1:p.Ala508= | |
| NM_022965.3:c.1182C>T | NP_075254.1:p.Ala394= | |
| XM_006713868.1:c.1530C>T | XP_006713931.1:p.Ala510= | |
| XM_006713869.1:c.1530C>T | XP_006713932.1:p.Ala510= | |
| XM_006713870.1:c.1527C>T | XP_006713933.1:p.Ala509= | |
| XM_006713871.1:c.1524C>T | XP_006713934.1:p.Ala508= | |
| XM_006713872.1:c.1521C>T | XP_006713935.1:p.Ala507= | |
| XM_006713873.1:c.1518C>T | XP_006713936.1:p.Ala506= | |
| XM_011513420.1:c.1524C>T | XP_011511722.1:p.Ala508= | |
| XM_011513422.1:c.1521C>T | XP_011511724.1:p.Ala507= | |
| NM_001354809.1:c.1521C>T | NP_001341738.1:p.Ala507= | |
| NM_001354810.1:c.1521C>T | NP_001341739.1:p.Ala507= | |
| NR_148971.1:n.1925C>T | ||
| NM_001354809.2:c.1521C>T | NP_001341738.1:p.Ala507= | |
| NM_001354810.2:c.1521C>T | NP_001341739.1:p.Ala507= | |
| NR_148971.2:n.1944C>T | ||
| NM_000142.5:c.1518C>T MANE Select | NP_000133.1:p.Ala506= | |
| NM_001163213.2:c.1524C>T | NP_001156685.1:p.Ala508= | |
| NM_022965.4:c.1182C>T | NP_075254.1:p.Ala394= |