Linked Data
ClinVar Variation Id:
1201962
ClinVar RCV Id:
RCV001567486
dbSNP Id:
rs761779906
ExAC:
3:4829716 G / A
gnomAD v2:
3-4829716-G-A
gnomAD v3:
3-4788032-G-A
gnomAD v4:
3-4788032-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.4788032G>A , CM000665.2:g.4788032G>A | GRCh38 |
| NC_000003.11:g.4829716G>A , CM000665.1:g.4829716G>A | GRCh37 |
| NC_000003.10:g.4804716G>A | NCBI36 |
| NG_016144.1:g.299685G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302640.13:c.6712G>A | ENSP00000306253.9:n.6712G>A | |
| ENST00000354582.12:c.6677G>A | ENSP00000346595.8:p.Arg2226Gln | |
| ENST00000443694.5:c.6656G>A | ENSP00000401671.2:p.Arg2219Gln | |
| ENST00000354582.11:c.6677G>A | ENSP00000346595.8:p.Arg2226Gln | |
| ENST00000357086.10:c.6557G>A | ENSP00000349597.4:p.Arg2186Gln | |
| ENST00000443694.4:c.6656G>A | ENSP00000401671.2:p.Arg2219Gln | |
| ENST00000456211.8:c.6512G>A | ENSP00000397885.2:p.Arg2171Gln | |
| ENST00000481415.2:n.593G>A | ||
| ENST00000544951.6:c.997-18071G>A | ENSP00000440564.1:n.997-18071G>A | |
| ENST00000647708.1:c.2600G>A | ||
| ENST00000647717.1:n.4205G>A | ||
| ENST00000648016.1:c.3036G>A | ||
| ENST00000648038.1:c.4463G>A | ENSP00000497872.1:p.Arg1488Gln | |
| ENST00000648212.1:c.3609G>A | ||
| ENST00000648266.1:c.6674G>A | ENSP00000498014.1:p.Arg2225Gln | |
| ENST00000648309.1:c.6629G>A | ENSP00000497026.1:p.Arg2210Gln | |
| ENST00000648390.1:c.447-58107G>A | ||
| ENST00000648431.1:c.4003G>A | ||
| ENST00000648510.1:n.535G>A | ||
| ENST00000649015.2:c.6701G>A MANE Select | ENSP00000497605.1:p.Arg2234Gln | |
| ENST00000649144.1:n.1749G>A | ||
| ENST00000649272.1:n.263G>A | ||
| ENST00000649694.1:n.4186G>A | ||
| ENST00000650294.1:c.6659G>A | ENSP00000498056.1:p.Arg2220Gln | |
| ENST00000302640.12:c.6656G>A | ENSP00000306253.8:p.Arg2219Gln | |
| ENST00000354582.10:c.6701G>A | ENSP00000346595.7:p.Arg2234Gln | |
| ENST00000357086.9:c.6557G>A | ENSP00000349597.4:p.Arg2186Gln | |
| ENST00000443694.3:c.6656G>A | ENSP00000401671.2:p.Arg2219Gln | |
| ENST00000456211.7:c.6512G>A | ENSP00000397885.2:p.Arg2171Gln | |
| ENST00000544951.5:c.997-18071G>A | ENSP00000440564.1:n.997-18071G>A | |
| NM_001099952.2:c.6557G>A | NP_001093422.2:p.Arg2186Gln | |
| NM_001168272.1:c.6656G>A | NP_001161744.1:p.Arg2219Gln | |
| NM_002222.5:c.6512G>A | NP_002213.5:p.Arg2171Gln | |
| XM_005265109.2:c.6632G>A | XP_005265166.1:p.Arg2211Gln | |
| XM_005265110.2:c.6584G>A | XP_005265167.1:p.Arg2195Gln | |
| XM_006713131.2:c.6635G>A | XP_006713194.1:p.Arg2212Gln | |
| XM_011533681.1:c.6704G>A | XP_011531983.1:p.Arg2235Gln | |
| XM_011533682.1:c.6704G>A | XP_011531984.1:p.Arg2235Gln | |
| XM_011533683.1:c.6701G>A | XP_011531985.1:p.Arg2234Gln | |
| XM_011533684.1:c.6677G>A | XP_011531986.1:p.Arg2226Gln | |
| XM_011533685.1:c.6671G>A | XP_011531987.1:p.Arg2224Gln | |
| XM_011533686.1:c.6668G>A | XP_011531988.1:p.Arg2223Gln | |
| XM_011533687.1:c.6659G>A | XP_011531989.1:p.Arg2220Gln | |
| XM_011533688.1:c.6632G>A | XP_011531990.1:p.Arg2211Gln | |
| XM_011533689.1:c.6593G>A | XP_011531991.1:p.Arg2198Gln | |
| XM_011533690.1:c.6704G>A | XP_011531992.1:p.Arg2235Gln | |
| XM_005265109.3:c.6632G>A | XP_005265166.1:p.Arg2211Gln | |
| XM_005265110.3:c.6584G>A | XP_005265167.1:p.Arg2195Gln | |
| XM_006713131.3:c.6635G>A | XP_006713194.1:p.Arg2212Gln | |
| XM_011533682.3:c.6704G>A | XP_011531984.1:p.Arg2235Gln | |
| XM_011533683.3:c.6701G>A | XP_011531985.1:p.Arg2234Gln | |
| XM_011533684.2:c.6677G>A | XP_011531986.1:p.Arg2226Gln | |
| XM_011533685.2:c.6671G>A | XP_011531987.1:p.Arg2224Gln | |
| XM_011533686.2:c.6668G>A | XP_011531988.1:p.Arg2223Gln | |
| XM_011533687.2:c.6659G>A | XP_011531989.1:p.Arg2220Gln | |
| XM_011533688.2:c.6632G>A | XP_011531990.1:p.Arg2211Gln | |
| XM_011533690.2:c.6704G>A | XP_011531992.1:p.Arg2235Gln | |
| XM_017006357.2:c.6701G>A | XP_016861846.1:p.Arg2234Gln | |
| NM_001099952.3:c.6557G>A | NP_001093422.2:p.Arg2186Gln | |
| NM_002222.6:c.6512G>A | NP_002213.5:p.Arg2171Gln | |
| NM_001099952.4:c.6557G>A | NP_001093422.2:p.Arg2186Gln | |
| NM_001168272.2:c.6656G>A | NP_001161744.1:p.Arg2219Gln | |
| NM_001378452.1:c.6701G>A MANE Select | NP_001365381.1:p.Arg2234Gln | |
| NM_002222.7:c.6512G>A | NP_002213.5:p.Arg2171Gln |