Linked Data
ClinVar Variation Id:
329320
dbSNP Id:
rs2303726
ExAC:
19:41120279 C / T
gnomAD v2:
19-41120279-C-T
gnomAD v3:
19-40614373-C-T
gnomAD v4:
19-40614373-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40614373C>T , CM000681.2:g.40614373C>T | GRCh38 |
| NC_000019.9:g.41120279C>T , CM000681.1:g.41120279C>T | GRCh37 |
| NC_000019.8:g.45812119C>T | NCBI36 |
| NG_021201.1:g.26208C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396819.8:c.2739C>T MANE Select | ENSP00000380031.5:p.Asn913= | |
| ENST00000204005.13:c.2829C>T | ENSP00000204005.10:p.Asn943= | |
| ENST00000243562.13:c.938C>T | ||
| ENST00000308370.11:c.2940C>T | ENSP00000311905.8:p.Asn980= | |
| ENST00000318809.11:n.263C>T | ||
| ENST00000396819.7:c.2739C>T | ENSP00000380031.4:p.Asn913= | |
| ENST00000593463.5:c.182C>T | ||
| ENST00000594448.5:n.194C>T | ||
| ENST00000595118.5:n.502C>T | ||
| ENST00000595665.1:n.182C>T | ||
| ENST00000596351.5:n.230C>T | ||
| ENST00000597071.5:c.256C>T | ||
| ENST00000597816.5:n.232C>T | ||
| ENST00000599724.5:c.264C>T | ENSP00000469785.1:p.Asn88= | |
| ENST00000600499.5:n.339C>T | ||
| ENST00000601032.5:c.634C>T | ||
| ENST00000601464.5:n.232C>T | ||
| ENST00000602251.5:n.502C>T | ||
| ENST00000610893.4:n.337C>T | ||
| ENST00000612121.4:c.370C>T | ||
| ENST00000612845.4:n.298C>T | ||
| ENST00000617753.4:n.198C>T | ||
| ENST00000618486.4:c.182C>T | ||
| ENST00000622107.4:n.198C>T | ||
| ENST00000622565.4:n.380C>T | ||
| NM_001042544.1:c.2940C>T | NP_001036009.1:p.Asn980= | |
| NM_001042545.1:c.2739C>T | NP_001036010.1:p.Asn913= | |
| NM_003573.2:c.2829C>T | NP_003564.2:p.Asn943= | |
| XM_011527376.1:c.3054C>T | XP_011525678.1:p.Asn1018= | |
| XM_011527377.1:c.2973C>T | XP_011525679.1:p.Asn991= | |
| XM_011527378.1:c.2973C>T | XP_011525680.1:p.Asn991= | |
| XM_011527379.1:c.2853C>T | XP_011525681.1:p.Asn951= | |
| XM_011527380.1:c.2847C>T | XP_011525682.1:p.Asn949= | |
| XM_011527381.1:c.2973C>T | XP_011525683.1:p.Asn991= | |
| XM_011527382.1:c.2730C>T | XP_011525684.1:p.Asn910= | |
| XM_011527383.1:c.2973C>T | XP_011525685.1:p.Asn991= | |
| XM_011527384.1:c.2973C>T | XP_011525686.1:p.Asn991= | |
| XM_011527385.1:c.2973C>T | XP_011525687.1:p.Asn991= | |
| XM_011527386.1:c.2973C>T | XP_011525688.1:p.Asn991= | |
| XM_011527387.1:c.2331C>T | XP_011525689.1:p.Asn777= | |
| XM_011527376.2:c.3054C>T | XP_011525678.1:p.Asn1018= | |
| XM_011527377.2:c.2973C>T | XP_011525679.1:p.Asn991= | |
| XM_011527378.2:c.2973C>T | XP_011525680.1:p.Asn991= | |
| XM_011527380.2:c.2847C>T | XP_011525682.1:p.Asn949= | |
| XM_011527381.2:c.2973C>T | XP_011525683.1:p.Asn991= | |
| XM_011527382.2:c.2730C>T | XP_011525684.1:p.Asn910= | |
| XM_011527383.2:c.2973C>T | XP_011525685.1:p.Asn991= | |
| XM_011527384.2:c.2973C>T | XP_011525686.1:p.Asn991= | |
| XM_011527385.2:c.2973C>T | XP_011525687.1:p.Asn991= | |
| XM_011527386.2:c.2973C>T | XP_011525688.1:p.Asn991= | |
| XM_017027352.1:c.2973C>T | XP_016882841.1:p.Asn991= | |
| XM_017027353.1:c.2973C>T | XP_016882842.1:p.Asn991= | |
| XM_017027354.1:c.2847C>T | XP_016882843.1:p.Asn949= | |
| NM_001042545.2:c.2739C>T MANE Select | NP_001036010.1:p.Asn913= |