Linked Data
ClinVar Variation Id:
433115
ClinVar RCV Id:
RCV000656027
dbSNP Id:
rs1441152520
gnomAD v2:
9-131394497-A-G
gnomAD v4:
9-128632218-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128632218A>G , CM000671.2:g.128632218A>G | GRCh38 |
| NC_000009.11:g.131394497A>G , CM000671.1:g.131394497A>G | GRCh37 |
| NC_000009.10:g.130434318A>G | NCBI36 |
| NG_027748.1:g.84661A>G | |
| NG_034056.1:g.29633T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627441.3:c.6890A>G | ENSP00000486547.2:p.Asn2297Ser | |
| ENST00000630866.2:c.6917A>G | ENSP00000487444.1:p.Asn2306Ser | |
| ENST00000704202.1:c.6941A>G | ENSP00000515764.1:p.Asn2314Ser | |
| ENST00000704203.1:c.6890A>G | ENSP00000515765.1:p.Asn2297Ser | |
| ENST00000704204.1:c.6380A>G | ENSP00000515766.1:p.Asn2127Ser | |
| ENST00000704206.1:c.4459A>G | ||
| ENST00000704207.1:c.2796A>G | ||
| ENST00000706487.1:c.6854A>G | ENSP00000516412.1:p.Asn2285Ser | |
| ENST00000372739.7:c.6854A>G MANE Select | ENSP00000361824.4:p.Asn2285Ser | |
| ENST00000636010.1:n.578A>G | ||
| ENST00000358161.9:c.6779A>G | ENSP00000350882.6:p.Asn2260Ser | |
| ENST00000372731.8:c.6839A>G | ENSP00000361816.4:p.Asn2280Ser | |
| ENST00000372739.5:c.6854A>G | ENSP00000361824.3:p.Asn2285Ser | |
| ENST00000625980.2:n.808A>G | ||
| ENST00000630763.1:n.611A>G | ||
| ENST00000630804.2:c.6794A>G | ENSP00000486308.1:p.Asn2265Ser | |
| ENST00000630866.1:c.6917A>G | ENSP00000487444.1:p.Asn2306Ser | |
| NM_001130438.2:c.6854A>G | NP_001123910.1:p.Asn2285Ser | |
| NM_001195532.1:c.6779A>G | NP_001182461.1:p.Asn2260Ser | |
| NM_003127.3:c.6839A>G | NP_003118.2:p.Asn2280Ser | |
| XM_006717245.1:c.6953A>G | XP_006717308.1:p.Asn2318Ser | |
| XM_006717246.1:c.6938A>G | XP_006717309.1:p.Asn2313Ser | |
| XM_006717247.1:c.6893A>G | XP_006717310.1:p.Asn2298Ser | |
| XM_006717248.1:c.6890A>G | XP_006717311.1:p.Asn2297Ser | |
| XM_006717249.1:c.6875A>G | XP_006717312.1:p.Asn2292Ser | |
| XM_006717250.1:c.6872A>G | XP_006717313.1:p.Asn2291Ser | |
| XM_006717251.1:c.6857A>G | XP_006717314.1:p.Asn2286Ser | |
| XM_006717252.1:c.6830A>G | XP_006717315.1:p.Asn2277Ser | |
| XM_006717253.1:c.6815A>G | XP_006717316.1:p.Asn2272Ser | |
| XM_006717254.1:c.6917A>G | XP_006717317.1:p.Asn2306Ser | |
| NM_001363759.1:c.6917A>G | NP_001350688.1:p.Asn2306Ser | |
| NM_001363765.1:c.6794A>G | NP_001350694.1:p.Asn2265Ser | |
| XM_006717247.2:c.6893A>G | XP_006717310.1:p.Asn2298Ser | |
| XM_006717248.2:c.6890A>G | XP_006717311.1:p.Asn2297Ser | |
| XM_006717251.2:c.6857A>G | XP_006717314.1:p.Asn2286Ser | |
| XM_006717252.3:c.6830A>G | XP_006717315.1:p.Asn2277Ser | |
| XM_017015059.1:c.6836A>G | XP_016870548.1:p.Asn2279Ser | |
| XM_017015060.1:c.6812A>G | XP_016870549.1:p.Asn2271Ser | |
| NM_001130438.3:c.6854A>G MANE Select | NP_001123910.1:p.Asn2285Ser | |
| NM_001195532.2:c.6779A>G | NP_001182461.1:p.Asn2260Ser | |
| NM_001363759.2:c.6917A>G | NP_001350688.1:p.Asn2306Ser | |
| NM_001363765.2:c.6794A>G | NP_001350694.1:p.Asn2265Ser | |
| NM_001375310.1:c.6941A>G | NP_001362239.1:p.Asn2314Ser | |
| NM_001375311.2:c.6854A>G | NP_001362240.1:p.Asn2285Ser | |
| NM_001375312.2:c.6890A>G | NP_001362241.2:p.Asn2297Ser | |
| NM_001375313.1:c.6836A>G | NP_001362242.1:p.Asn2279Ser | |
| NM_001375314.2:c.6794A>G | NP_001362243.1:p.Asn2265Ser | |
| NM_001375318.1:c.6953A>G | NP_001362247.1:p.Asn2318Ser | |
| NM_003127.4:c.6839A>G | NP_003118.2:p.Asn2280Ser |