Linked Data
ClinVar Variation Id:
403013
ClinVar RCV Id:
RCV000454897
dbSNP Id:
rs55654273
ExAC:
9:86474115 T / C
gnomAD v2:
9-86474115-T-C
gnomAD v3:
9-83859200-T-C
gnomAD v4:
9-83859200-T-C
COSMIC:
COSM3764032
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.83859200T>C , CM000671.2:g.83859200T>C | GRCh38 |
| NC_000009.11:g.86474115T>C , CM000671.1:g.86474115T>C | GRCh37 |
| NC_000009.10:g.85663935T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297814.7:c.3106A>G MANE Select | ENSP00000297814.2:p.Asn1036Asp | |
| ENST00000297814.6:c.3106A>G | ENSP00000297814.2:p.Asn1036Asp | |
| ENST00000334204.6:c.2815A>G | ENSP00000333928.2:p.Asn939Asp | |
| ENST00000413982.5:c.2908A>G | ENSP00000401688.1:p.Asn970Asp | |
| NM_001271927.1:c.2908A>G | NP_001258856.1:p.Asn970Asp | |
| NM_001271928.1:c.2815A>G | NP_001258857.1:p.Asn939Asp | |
| NM_017576.2:c.3106A>G | NP_060046.1:p.Asn1036Asp | |
| XM_011518848.1:c.3184A>G | XP_011517150.1:p.Asn1062Asp | |
| XM_011518849.1:c.3184A>G | XP_011517151.1:p.Asn1062Asp | |
| XM_011518850.1:c.3184A>G | XP_011517152.1:p.Asn1062Asp | |
| XM_011518851.1:c.3007A>G | XP_011517153.1:p.Asn1003Asp | |
| XM_011518852.1:c.2986A>G | XP_011517154.1:p.Asn996Asp | |
| XM_011518853.1:c.3013-5365A>G | XP_011517155.1:n.3013-5365A>G | |
| XM_011518854.1:c.2836-5365A>G | XP_011517156.1:n.2836-5365A>G | |
| XM_011518855.1:c.3184A>G | XP_011517157.1:p.Asn1062Asp | |
| XM_011518856.1:c.3184A>G | XP_011517158.1:p.Asn1062Asp | |
| XM_011518857.1:c.2110A>G | XP_011517159.1:p.Asn704Asp | |
| XM_011518858.1:c.1744A>G | XP_011517160.1:p.Asn582Asp | |
| XM_011518859.1:c.1279A>G | XP_011517161.1:p.Asn427Asp | |
| XR_929827.1:n.2695-5365A>G | ||
| XR_930023.1:n.2109+40T>C | ||
| XR_930031.1:n.1840+40T>C | ||
| NM_001271927.2:c.2908A>G | NP_001258856.1:p.Asn970Asp | |
| NM_001271928.2:c.2815A>G | NP_001258857.1:p.Asn939Asp | |
| NM_001354069.1:c.2758-5365A>G | NP_001340998.1:n.2758-5365A>G | |
| NM_001354070.1:c.1666A>G | NP_001340999.1:p.Asn556Asp | |
| NM_001354071.1:c.1495-5365A>G | NP_001341000.1:n.1495-5365A>G | |
| NM_017576.3:c.3106A>G | NP_060046.1:p.Asn1036Asp | |
| XM_011518848.3:c.3184A>G | XP_011517150.1:p.Asn1062Asp | |
| XM_011518849.2:c.3184A>G | XP_011517151.1:p.Asn1062Asp | |
| XM_011518850.2:c.3184A>G | XP_011517152.1:p.Asn1062Asp | |
| XM_011518854.2:c.2836-5365A>G | XP_011517156.1:n.2836-5365A>G | |
| XM_011518856.2:c.3184A>G | XP_011517158.1:p.Asn1062Asp | |
| XM_011518857.2:c.2110A>G | XP_011517159.1:p.Asn704Asp | |
| XM_017014900.1:c.3184A>G | XP_016870389.1:p.Asn1062Asp | |
| XM_017014901.2:c.3184A>G | XP_016870390.1:p.Asn1062Asp | |
| XM_017014902.1:c.3184A>G | XP_016870391.1:p.Asn1062Asp | |
| XM_017014903.1:c.3106A>G | XP_016870392.1:p.Asn1036Asp | |
| XM_017014904.1:c.3106A>G | XP_016870393.1:p.Asn1036Asp | |
| XM_017014905.1:c.2986A>G | XP_016870394.1:p.Asn996Asp | |
| XM_017014906.1:c.3013-5365A>G | XP_016870395.1:n.3013-5365A>G | |
| XM_017014907.1:c.2908A>G | XP_016870396.1:p.Asn970Asp | |
| XM_017014908.1:c.2815A>G | XP_016870397.1:p.Asn939Asp | |
| XM_017014909.1:c.2728A>G | XP_016870398.1:p.Asn910Asp | |
| XM_017014911.2:c.2032A>G | XP_016870400.1:p.Asn678Asp | |
| XM_017014912.2:c.1666A>G | XP_016870401.1:p.Asn556Asp | |
| XM_017014916.1:c.1279A>G | XP_016870405.1:p.Asn427Asp | |
| XM_024447608.1:c.2758-5365A>G | XP_024303376.1:n.2758-5365A>G | |
| XM_024447609.1:c.1744A>G | XP_024303377.1:p.Asn582Asp | |
| XM_024447610.1:c.1666A>G | XP_024303378.1:p.Asn556Asp | |
| XR_002956796.1:n.3182A>G | ||
| NM_017576.4:c.3106A>G MANE Select | NP_060046.1:p.Asn1036Asp | |
| NM_001354069.2:c.2758-5365A>G | NP_001340998.1:n.2758-5365A>G | |
| NM_001354070.2:c.1666A>G | NP_001340999.1:p.Asn556Asp | |
| NM_001354071.2:c.1495-5365A>G | NP_001341000.1:n.1495-5365A>G | |
| NM_001271927.3:c.2908A>G | NP_001258856.1:p.Asn970Asp | |
| NM_001271928.3:c.2815A>G | NP_001258857.1:p.Asn939Asp |