Linked Data
ClinVar Variation Id:
542222
ClinVar RCV Id:
RCV000652617
dbSNP Id:
rs1398213134
gnomAD v2:
3-47163304-T-C
gnomAD v3:
3-47121814-T-C
gnomAD v4:
3-47121814-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47121814T>C , CM000665.2:g.47121814T>C | GRCh38 |
| NC_000003.11:g.47163304T>C , CM000665.1:g.47163304T>C | GRCh37 |
| NC_000003.10:g.47138308T>C | NCBI36 |
| NG_032091.1:g.47164A>G , LRG_775:g.47164A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638947.2:c.2690A>G | ENSP00000491413.2:p.Lys897Arg | |
| ENST00000685005.1:c.2723A>G | ENSP00000509568.1:p.Lys908Arg | |
| ENST00000685399.1:c.702A>G | ||
| ENST00000685505.1:c.763A>G | ||
| ENST00000686773.1:c.702A>G | ||
| ENST00000688290.1:c.702A>G | ||
| ENST00000690461.1:c.986A>G | ENSP00000509352.1:p.Lys329Arg | |
| ENST00000691544.1:c.72-23733A>G | ENSP00000510710.1:n.72-23733A>G | |
| ENST00000692883.1:c.763A>G | ||
| ENST00000693321.1:c.702A>G | ||
| ENST00000409792.4:c.2822A>G MANE Select | ENSP00000386759.3:p.Lys941Arg | |
| ENST00000330022.11:c.2437A>G | ||
| ENST00000409792.3:c.2822A>G | ENSP00000386759.3:p.Lys941Arg | |
| ENST00000412450.1:c.2690A>G | ENSP00000416401.1:p.Lys897Arg | |
| ENST00000431180.5:c.1974A>G | ||
| ENST00000445387.5:c.1722A>G | ||
| NM_014159.6:c.2822A>G , LRG_775t1:c.2822A>G | NP_054878.5:p.Lys941Arg | |
| XM_011533631.1:c.2900A>G | XP_011531933.1:p.Lys967Arg | |
| XM_011533632.1:c.2846A>G | XP_011531934.1:p.Lys949Arg | |
| XM_011533633.1:c.2900A>G | XP_011531935.1:p.Lys967Arg | |
| XM_011533634.1:c.2690A>G | XP_011531936.1:p.Lys897Arg | |
| XR_940418.1:n.2915A>G | ||
| XR_940419.1:n.3003A>G | ||
| XR_940420.1:n.3003A>G | ||
| NM_001349370.1:c.2690A>G | NP_001336299.1:p.Lys897Arg | |
| NR_146158.1:n.2875A>G | ||
| XM_011533632.3:c.2846A>G | XP_011531934.1:p.Lys949Arg | |
| XM_024453487.1:c.2690A>G | XP_024309255.1:p.Lys897Arg | |
| XM_024453488.1:c.2690A>G | XP_024309256.1:p.Lys897Arg | |
| XM_024453489.1:c.2690A>G | XP_024309257.1:p.Lys897Arg | |
| XR_001740131.2:n.2875A>G | ||
| XR_002959510.1:n.2751A>G | ||
| XR_002959511.1:n.2751A>G | ||
| XR_002959512.1:n.2751A>G | ||
| XR_002959513.1:n.2751A>G | ||
| XR_002959514.1:n.2751A>G | ||
| XR_002959515.1:n.2751A>G | ||
| XR_002959516.1:n.2751A>G | ||
| XR_002959517.1:n.2751A>G | ||
| NM_001349370.2:c.2690A>G | NP_001336299.1:p.Lys897Arg | |
| NR_146158.2:n.3011A>G | ||
| NM_001349370.3:c.2690A>G | NP_001336299.1:p.Lys897Arg | |
| NM_014159.7:c.2822A>G MANE Select | NP_054878.5:p.Lys941Arg | |
| NR_146158.3:n.3011A>G |