Linked Data
ClinVar Variation Id:
1396033
dbSNP Id:
rs1341044436
gnomAD v2:
9-131394484-C-A
gnomAD v4:
9-128632205-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128632205C>A , CM000671.2:g.128632205C>A | GRCh38 |
| NC_000009.11:g.131394484C>A , CM000671.1:g.131394484C>A | GRCh37 |
| NC_000009.10:g.130434305C>A | NCBI36 |
| NG_027748.1:g.84648C>A | |
| NG_034056.1:g.29646G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627441.3:c.6877C>A | ENSP00000486547.2:p.Leu2293Ile | |
| ENST00000630866.2:c.6904C>A | ENSP00000487444.1:p.Leu2302Ile | |
| ENST00000704202.1:c.6928C>A | ENSP00000515764.1:p.Leu2310Ile | |
| ENST00000704203.1:c.6877C>A | ENSP00000515765.1:p.Leu2293Ile | |
| ENST00000704204.1:c.6367C>A | ENSP00000515766.1:p.Leu2123Ile | |
| ENST00000704206.1:c.4446C>A | ||
| ENST00000704207.1:c.2783C>A | ||
| ENST00000706487.1:c.6841C>A | ENSP00000516412.1:p.Leu2281Ile | |
| ENST00000372739.7:c.6841C>A MANE Select | ENSP00000361824.4:p.Leu2281Ile | |
| ENST00000636010.1:n.565C>A | ||
| ENST00000358161.9:c.6766C>A | ENSP00000350882.6:p.Leu2256Ile | |
| ENST00000372731.8:c.6826C>A | ENSP00000361816.4:p.Leu2276Ile | |
| ENST00000372739.5:c.6841C>A | ENSP00000361824.3:p.Leu2281Ile | |
| ENST00000625980.2:n.795C>A | ||
| ENST00000630763.1:n.598C>A | ||
| ENST00000630804.2:c.6781C>A | ENSP00000486308.1:p.Leu2261Ile | |
| ENST00000630866.1:c.6904C>A | ENSP00000487444.1:p.Leu2302Ile | |
| NM_001130438.2:c.6841C>A | NP_001123910.1:p.Leu2281Ile | |
| NM_001195532.1:c.6766C>A | NP_001182461.1:p.Leu2256Ile | |
| NM_003127.3:c.6826C>A | NP_003118.2:p.Leu2276Ile | |
| XM_006717245.1:c.6940C>A | XP_006717308.1:p.Leu2314Ile | |
| XM_006717246.1:c.6925C>A | XP_006717309.1:p.Leu2309Ile | |
| XM_006717247.1:c.6880C>A | XP_006717310.1:p.Leu2294Ile | |
| XM_006717248.1:c.6877C>A | XP_006717311.1:p.Leu2293Ile | |
| XM_006717249.1:c.6862C>A | XP_006717312.1:p.Leu2288Ile | |
| XM_006717250.1:c.6859C>A | XP_006717313.1:p.Leu2287Ile | |
| XM_006717251.1:c.6844C>A | XP_006717314.1:p.Leu2282Ile | |
| XM_006717252.1:c.6817C>A | XP_006717315.1:p.Leu2273Ile | |
| XM_006717253.1:c.6802C>A | XP_006717316.1:p.Leu2268Ile | |
| XM_006717254.1:c.6904C>A | XP_006717317.1:p.Leu2302Ile | |
| NM_001363759.1:c.6904C>A | NP_001350688.1:p.Leu2302Ile | |
| NM_001363765.1:c.6781C>A | NP_001350694.1:p.Leu2261Ile | |
| XM_006717247.2:c.6880C>A | XP_006717310.1:p.Leu2294Ile | |
| XM_006717248.2:c.6877C>A | XP_006717311.1:p.Leu2293Ile | |
| XM_006717251.2:c.6844C>A | XP_006717314.1:p.Leu2282Ile | |
| XM_006717252.3:c.6817C>A | XP_006717315.1:p.Leu2273Ile | |
| XM_017015059.1:c.6823C>A | XP_016870548.1:p.Leu2275Ile | |
| XM_017015060.1:c.6799C>A | XP_016870549.1:p.Leu2267Ile | |
| NM_001130438.3:c.6841C>A MANE Select | NP_001123910.1:p.Leu2281Ile | |
| NM_001195532.2:c.6766C>A | NP_001182461.1:p.Leu2256Ile | |
| NM_001363759.2:c.6904C>A | NP_001350688.1:p.Leu2302Ile | |
| NM_001363765.2:c.6781C>A | NP_001350694.1:p.Leu2261Ile | |
| NM_001375310.1:c.6928C>A | NP_001362239.1:p.Leu2310Ile | |
| NM_001375311.2:c.6841C>A | NP_001362240.1:p.Leu2281Ile | |
| NM_001375312.2:c.6877C>A | NP_001362241.2:p.Leu2293Ile | |
| NM_001375313.1:c.6823C>A | NP_001362242.1:p.Leu2275Ile | |
| NM_001375314.2:c.6781C>A | NP_001362243.1:p.Leu2261Ile | |
| NM_001375318.1:c.6940C>A | NP_001362247.1:p.Leu2314Ile | |
| NM_003127.4:c.6826C>A | NP_003118.2:p.Leu2276Ile |