Linked Data
ClinVar Variation Id:
225778
ClinVar RCV Id:
RCV001516869
dbSNP Id:
rs6762644
gnomAD v2:
3-4742276-A-G
gnomAD v3:
3-4700592-A-G
gnomAD v4:
3-4700592-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.4700592A>G , CM000665.2:g.4700592A>G | GRCh38 |
| NC_000003.11:g.4742276A>G , CM000665.1:g.4742276A>G | GRCh37 |
| NC_000003.10:g.4717276A>G | NCBI36 |
| NG_016144.1:g.212245A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302640.13:c.4509+651A>G | ENSP00000306253.9:n.4509+651A>G | |
| ENST00000354582.12:c.4509+651A>G | ENSP00000346595.8:n.4509+651A>G | |
| ENST00000443694.5:c.4491+651A>G | ENSP00000401671.2:n.4491+651A>G | |
| ENST00000354582.11:c.4509+651A>G | ENSP00000346595.8:n.4509+651A>G | |
| ENST00000357086.10:c.4509+651A>G | ENSP00000349597.4:n.4509+651A>G | |
| ENST00000443694.4:c.4491+651A>G | ENSP00000401671.2:n.4491+651A>G | |
| ENST00000456211.8:c.4464+651A>G | ENSP00000397885.2:n.4464+651A>G | |
| ENST00000544951.6:c.996+46706A>G | ENSP00000440564.1:n.996+46706A>G | |
| ENST00000647624.1:n.1248+651A>G | ||
| ENST00000647673.1:n.528+651A>G | ||
| ENST00000647708.1:c.397+651A>G | ||
| ENST00000647717.1:n.2037+651A>G | ||
| ENST00000648016.1:c.868+651A>G | ||
| ENST00000648038.1:c.2346+651A>G | ENSP00000497872.1:n.2346+651A>G | |
| ENST00000648212.1:c.1444+651A>G | ||
| ENST00000648266.1:c.4509+651A>G | ENSP00000498014.1:n.4509+651A>G | |
| ENST00000648309.1:c.4464+651A>G | ENSP00000497026.1:n.4464+651A>G | |
| ENST00000648431.1:c.1838+651A>G | ||
| ENST00000649015.2:c.4536+651A>G MANE Select | ENSP00000497605.1:n.4536+651A>G | |
| ENST00000649414.1:c.111+651A>G | ENSP00000497099.1:n.111+651A>G | |
| ENST00000650294.1:c.4491+651A>G | ENSP00000498056.1:n.4491+651A>G | |
| ENST00000302640.12:c.4491+651A>G | ENSP00000306253.8:n.4491+651A>G | |
| ENST00000354582.10:c.4536+651A>G | ENSP00000346595.7:n.4536+651A>G | |
| ENST00000357086.9:c.4509+651A>G | ENSP00000349597.4:n.4509+651A>G | |
| ENST00000443694.3:c.4491+651A>G | ENSP00000401671.2:n.4491+651A>G | |
| ENST00000456211.7:c.4464+651A>G | ENSP00000397885.2:n.4464+651A>G | |
| ENST00000544951.5:c.996+46706A>G | ENSP00000440564.1:n.996+46706A>G | |
| NM_001099952.2:c.4509+651A>G | NP_001093422.2:n.4509+651A>G | |
| NM_001168272.1:c.4491+651A>G | NP_001161744.1:n.4491+651A>G | |
| NM_002222.5:c.4464+651A>G | NP_002213.5:n.4464+651A>G | |
| XM_005265109.2:c.4536+651A>G | XP_005265166.1:n.4536+651A>G | |
| XM_005265110.2:c.4536+651A>G | XP_005265167.1:n.4536+651A>G | |
| XM_006713131.2:c.4536+651A>G | XP_006713194.1:n.4536+651A>G | |
| XM_011533681.1:c.4536+651A>G | XP_011531983.1:n.4536+651A>G | |
| XM_011533682.1:c.4536+651A>G | XP_011531984.1:n.4536+651A>G | |
| XM_011533683.1:c.4536+651A>G | XP_011531985.1:n.4536+651A>G | |
| XM_011533684.1:c.4509+651A>G | XP_011531986.1:n.4509+651A>G | |
| XM_011533685.1:c.4536+651A>G | XP_011531987.1:n.4536+651A>G | |
| XM_011533686.1:c.4536+651A>G | XP_011531988.1:n.4536+651A>G | |
| XM_011533687.1:c.4491+651A>G | XP_011531989.1:n.4491+651A>G | |
| XM_011533688.1:c.4464+651A>G | XP_011531990.1:n.4464+651A>G | |
| XM_011533689.1:c.4536+651A>G | XP_011531991.1:n.4536+651A>G | |
| XM_011533690.1:c.4536+651A>G | XP_011531992.1:n.4536+651A>G | |
| XM_011533691.1:c.4536+651A>G | XP_011531993.1:n.4536+651A>G | |
| XM_011533692.1:c.4536+651A>G | XP_011531994.1:n.4536+651A>G | |
| XM_005265109.3:c.4536+651A>G | XP_005265166.1:n.4536+651A>G | |
| XM_005265110.3:c.4536+651A>G | XP_005265167.1:n.4536+651A>G | |
| XM_006713131.3:c.4536+651A>G | XP_006713194.1:n.4536+651A>G | |
| XM_011533682.3:c.4536+651A>G | XP_011531984.1:n.4536+651A>G | |
| XM_011533683.3:c.4536+651A>G | XP_011531985.1:n.4536+651A>G | |
| XM_011533684.2:c.4509+651A>G | XP_011531986.1:n.4509+651A>G | |
| XM_011533685.2:c.4536+651A>G | XP_011531987.1:n.4536+651A>G | |
| XM_011533686.2:c.4536+651A>G | XP_011531988.1:n.4536+651A>G | |
| XM_011533687.2:c.4491+651A>G | XP_011531989.1:n.4491+651A>G | |
| XM_011533688.2:c.4464+651A>G | XP_011531990.1:n.4464+651A>G | |
| XM_011533690.2:c.4536+651A>G | XP_011531992.1:n.4536+651A>G | |
| XM_011533692.2:c.4536+651A>G | XP_011531994.1:n.4536+651A>G | |
| XM_017006357.2:c.4536+651A>G | XP_016861846.1:n.4536+651A>G | |
| XM_017006358.1:c.4536+651A>G | XP_016861847.1:n.4536+651A>G | |
| NM_001099952.3:c.4509+651A>G | NP_001093422.2:n.4509+651A>G | |
| NM_002222.6:c.4464+651A>G | NP_002213.5:n.4464+651A>G | |
| NM_001099952.4:c.4509+651A>G | NP_001093422.2:n.4509+651A>G | |
| NM_001168272.2:c.4491+651A>G | NP_001161744.1:n.4491+651A>G | |
| NM_001378452.1:c.4536+651A>G MANE Select | NP_001365381.1:n.4536+651A>G | |
| NM_002222.7:c.4464+651A>G | NP_002213.5:n.4464+651A>G |