Linked Data
ClinVar Variation Id:
1271269
ClinVar RCV Id:
RCV001681318
dbSNP Id:
rs3213764
ExAC:
12:14587301 A / G
gnomAD v2:
12-14587301-A-G
gnomAD v3:
12-14434367-A-G
gnomAD v4:
12-14434367-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14434367A>G , CM000674.2:g.14434367A>G | GRCh38 |
| NC_000012.11:g.14587301A>G , CM000674.1:g.14587301A>G | GRCh37 |
| NC_000012.10:g.14478568A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261168.9:c.1589A>G MANE Select | ENSP00000261168.4:p.Lys530Arg | |
| ENST00000261168.8:c.1589A>G | ENSP00000261168.4:p.Lys530Arg | |
| ENST00000536444.5:c.1586A>G | ENSP00000445955.1:p.Lys529Arg | |
| ENST00000537653.5:n.1747A>G | ||
| ENST00000538511.5:c.-95A>G | ENSP00000440587.1:n.-95A>G | |
| ENST00000539659.5:n.1745A>G | ||
| ENST00000540793.5:c.1589A>G | ENSP00000444589.1:p.Lys530Arg | |
| ENST00000541654.1:n.1681A>G | ||
| ENST00000543189.5:c.1586A>G | ENSP00000443179.1:p.Lys529Arg | |
| ENST00000544627.5:c.1613A>G | ENSP00000440440.1:p.Lys538Arg | |
| ENST00000545723.1:c.256-1828A>G | ENSP00000444620.1:n.256-1828A>G | |
| NM_001286514.1:c.1586A>G | NP_001273443.1:p.Lys529Arg | |
| NM_001286515.1:c.1586A>G | NP_001273444.1:p.Lys529Arg | |
| NM_018179.4:c.1589A>G | NP_060649.3:p.Lys530Arg | |
| NM_181352.1:c.1613A>G | NP_851997.1:p.Lys538Arg | |
| XM_005253424.2:c.1610A>G | XP_005253481.1:p.Lys537Arg | |
| XM_006719108.2:c.1589A>G | XP_006719171.1:p.Lys530Arg | |
| XM_006719109.2:c.1589A>G | XP_006719172.1:p.Lys530Arg | |
| XM_011520754.1:c.1589A>G | XP_011519056.1:p.Lys530Arg | |
| XM_011520755.1:c.1589A>G | XP_011519057.1:p.Lys530Arg | |
| XM_011520756.1:c.1613A>G | XP_011519058.1:p.Lys538Arg | |
| XM_011520757.1:c.1613A>G | XP_011519059.1:p.Lys538Arg | |
| XM_011520758.1:c.1610A>G | XP_011519060.1:p.Lys537Arg | |
| XM_011520759.1:c.1586A>G | XP_011519061.1:p.Lys529Arg | |
| XM_005253424.4:c.1610A>G | XP_005253481.1:p.Lys537Arg | |
| XM_006719108.3:c.1589A>G | XP_006719171.1:p.Lys530Arg | |
| XM_006719109.3:c.1589A>G | XP_006719172.1:p.Lys530Arg | |
| XM_011520754.3:c.1589A>G | XP_011519056.1:p.Lys530Arg | |
| XM_011520755.2:c.1589A>G | XP_011519057.1:p.Lys530Arg | |
| XM_011520756.3:c.1613A>G | XP_011519058.1:p.Lys538Arg | |
| XM_017019638.1:c.1589A>G | XP_016875127.1:p.Lys530Arg | |
| XM_017019639.1:c.1586A>G | XP_016875128.1:p.Lys529Arg | |
| XR_001748806.2:n.1657A>G | ||
| XR_001748807.2:n.1654A>G | ||
| XR_001748808.2:n.1784A>G | ||
| XR_001748809.2:n.1781A>G | ||
| NM_001286514.2:c.1586A>G | NP_001273443.1:p.Lys529Arg | |
| NM_001286515.2:c.1586A>G | NP_001273444.1:p.Lys529Arg | |
| NM_181352.2:c.1613A>G | NP_851997.1:p.Lys538Arg | |
| NM_001388179.1:c.1610A>G | NP_001375108.1:p.Lys537Arg | |
| NM_001388180.1:c.1589A>G | NP_001375109.1:p.Lys530Arg | |
| NM_001388181.1:c.1589A>G | NP_001375110.1:p.Lys530Arg | |
| NM_001388182.1:c.1589A>G | NP_001375111.1:p.Lys530Arg | |
| NM_001388183.1:c.1589A>G | NP_001375112.1:p.Lys530Arg | |
| NM_001388184.1:c.1586A>G | NP_001375113.1:p.Lys529Arg | |
| NM_018179.5:c.1589A>G MANE Select | NP_060649.3:p.Lys530Arg | |
| NR_170893.1:n.1742A>G |