Linked Data
ClinVar Variation Id:
292628
dbSNP Id:
rs550606876
gnomAD v3:
1-154162343-C-A
gnomAD v4:
1-154162343-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154162343C>A , CM000663.2:g.154162343C>A | GRCh38 |
| NC_000001.10:g.154134819C>A , CM000663.1:g.154134819C>A | GRCh37 |
| NC_000001.9:g.152401443C>A | NCBI36 |
| NG_008621.1:g.34791G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000611659.5:c.602-4622G>T | ENSP00000480520.1:n.602-4622G>T | |
| ENST00000312970.13:n.632-4622G>T | ||
| ENST00000323144.12:c.665-3295G>T | ENSP00000357518.4:n.665-3295G>T | |
| ENST00000328159.9:c.744-4622G>T | ENSP00000357520.1:n.744-4622G>T | |
| ENST00000341372.8:c.*381-4622G>T | ENSP00000339378.4:n.*381-4622G>T | |
| ENST00000341485.10:c.665-3295G>T | ENSP00000341653.6:n.665-3295G>T | |
| ENST00000368533.8:c.665-4622G>T | ENSP00000357521.3:n.665-4622G>T | |
| ENST00000651641.1:c.*5594G>T MANE Select | ENSP00000498577.1:n.*5594G>T | |
| ENST00000651731.1:c.224-565G>T | ||
| ENST00000651873.1:c.686-4622G>T | ||
| ENST00000271850.11:c.776-4622G>T | ENSP00000271850.7:n.776-4622G>T | |
| ENST00000302206.9:c.395-4622G>T | ENSP00000307712.5:n.395-4622G>T | |
| ENST00000312970.12:n.555-4622G>T | ||
| ENST00000323144.11:c.665-3295G>T | ENSP00000357518.4:n.665-3295G>T | |
| ENST00000328159.8:c.744-4622G>T | ENSP00000357520.1:n.744-4622G>T | |
| ENST00000330188.13:c.665-4622G>T | ENSP00000339035.7:n.665-4622G>T | |
| ENST00000341372.7:c.590-4622G>T | ENSP00000339378.3:n.590-4622G>T | |
| ENST00000341485.9:c.617-4622G>T | ENSP00000341653.5:n.617-4622G>T | |
| ENST00000368531.6:c.665-3295G>T | ENSP00000357517.2:n.665-3295G>T | |
| ENST00000368533.7:c.665-4622G>T | ENSP00000357521.3:n.665-4622G>T | |
| ENST00000368545.7:n.783-4622G>T | ||
| ENST00000469717.5:n.2679-4622G>T | ||
| ENST00000509409.5:c.*381-4622G>T | ENSP00000426521.1:n.*381-4622G>T | |
| ENST00000513769.5:n.350-4622G>T | ||
| ENST00000611659.4:c.602-4622G>T | ENSP00000480520.1:n.602-4622G>T | |
| NM_001043351.1:c.665-4622G>T | NP_001036816.1:n.665-4622G>T | |
| NM_001043352.1:c.665-3295G>T | NP_001036817.1:n.665-3295G>T | |
| NM_001043353.1:c.665-3295G>T | NP_001036818.1:n.665-3295G>T | |
| NM_001278188.1:c.467-4622G>T | NP_001265117.1:n.467-4622G>T | |
| NM_001278189.1:c.744-4622G>T | NP_001265118.1:n.744-4622G>T | |
| NM_001278190.1:c.602-4622G>T | NP_001265119.1:n.602-4622G>T | |
| NM_001278191.1:c.395-4622G>T | NP_001265120.1:n.395-4622G>T | |
| NM_152263.3:c.*5594G>T | NP_689476.2:n.*5594G>T | |
| NM_153649.3:c.665-4622G>T | NP_705935.1:n.665-4622G>T | |
| NR_103461.1:n.791-4622G>T | ||
| XM_006711515.1:c.776-4622G>T | XP_006711578.1:n.776-4622G>T | |
| XM_006711518.1:c.855-4622G>T | XP_006711581.1:n.855-4622G>T | |
| XM_006711519.1:c.776-4622G>T | XP_006711582.1:n.776-4622G>T | |
| XM_006711520.1:c.776-3295G>T | XP_006711583.1:n.776-3295G>T | |
| XM_006711521.1:c.776-3295G>T | XP_006711584.1:n.776-3295G>T | |
| XM_011509950.1:c.855-3295G>T | XP_011508252.1:n.855-3295G>T | |
| XM_011509951.1:c.855-3295G>T | XP_011508253.1:n.855-3295G>T | |
| XM_011509952.1:c.744-3295G>T | XP_011508254.1:n.744-3295G>T | |
| XM_011509953.1:c.744-3295G>T | XP_011508255.1:n.744-3295G>T | |
| NM_001349679.1:c.744-4622G>T | NP_001336608.1:n.744-4622G>T | |
| NM_001364679.1:c.776-4622G>T | NP_001351608.1:n.776-4622G>T | |
| NM_001364680.1:c.776-4622G>T | NP_001351609.1:n.776-4622G>T | |
| NM_001364681.1:c.776-3295G>T | NP_001351610.1:n.776-3295G>T | |
| NM_001364682.1:c.*5594G>T | NP_001351611.1:n.*5594G>T | |
| NM_001364683.1:c.*5594G>T | NP_001351612.1:n.*5594G>T | |
| NM_152263.4:c.*5594G>T MANE Select | NP_689476.2:n.*5594G>T | |
| NM_001043351.2:c.665-4622G>T | NP_001036816.1:n.665-4622G>T | |
| NM_001043352.2:c.665-3295G>T | NP_001036817.1:n.665-3295G>T | |
| NM_001043353.2:c.665-3295G>T | NP_001036818.1:n.665-3295G>T | |
| NM_001278188.2:c.467-4622G>T | NP_001265117.1:n.467-4622G>T | |
| NM_001278189.2:c.744-4622G>T | NP_001265118.1:n.744-4622G>T | |
| NM_001278191.2:c.395-4622G>T | NP_001265120.1:n.395-4622G>T | |
| NM_001349679.2:c.744-4622G>T | NP_001336608.1:n.744-4622G>T | |
| NM_001364679.2:c.776-4622G>T | NP_001351608.1:n.776-4622G>T | |
| NM_001364680.2:c.776-4622G>T | NP_001351609.1:n.776-4622G>T | |
| NM_001364681.2:c.776-3295G>T | NP_001351610.1:n.776-3295G>T | |
| NM_153649.4:c.665-4622G>T | NP_705935.1:n.665-4622G>T | |
| NR_103461.2:n.760-4622G>T | ||
| NM_001278190.2:c.602-4622G>T | NP_001265119.1:n.602-4622G>T |