Linked Data
ClinVar Variation Id:
403477
dbSNP Id:
rs6451206
ExAC:
5:35700598 T / C
gnomAD v2:
5-35700598-T-C
gnomAD v3:
5-35700496-T-C
gnomAD v4:
5-35700496-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35700496T>C , CM000667.2:g.35700496T>C | GRCh38 |
| NC_000005.9:g.35700598T>C , CM000667.1:g.35700598T>C | GRCh37 |
| NC_000005.8:g.35736355T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356031.8:c.2142T>C MANE Select | ENSP00000348314.3:p.Asn714= | |
| ENST00000637569.1:c.2142T>C | ENSP00000490886.1:p.Asn714= | |
| ENST00000356031.7:c.2142T>C | ENSP00000348314.3:p.Asn714= | |
| ENST00000440995.6:c.2127T>C | ENSP00000412125.2:p.Asn709= | |
| ENST00000503074.1:n.3820T>C | ||
| ENST00000504054.1:c.660T>C | ENSP00000421744.1:p.Asn220= | |
| ENST00000509059.5:c.2127T>C | ENSP00000421593.1:p.Asn709= | |
| NM_024867.3:c.2142T>C | NP_079143.3:p.Asn714= | |
| XM_005248376.3:c.2142T>C | XP_005248433.1:p.Asn714= | |
| XM_005248377.2:c.2127T>C | XP_005248434.1:p.Asn709= | |
| XM_005248378.2:c.2142T>C | XP_005248435.1:p.Asn714= | |
| XM_006714501.2:c.2142T>C | XP_006714564.1:p.Asn714= | |
| XM_011514135.1:c.2142T>C | XP_011512437.1:p.Asn714= | |
| XM_011514136.1:c.2142T>C | XP_011512438.1:p.Asn714= | |
| XM_011514137.1:c.2127T>C | XP_011512439.1:p.Asn709= | |
| XM_011514138.1:c.2142T>C | XP_011512440.1:p.Asn714= | |
| XM_011514139.1:c.2142T>C | XP_011512441.1:p.Asn714= | |
| XM_011514140.1:c.1971T>C | XP_011512442.1:p.Asn657= | |
| XM_011514141.1:c.1716T>C | XP_011512443.1:p.Asn572= | |
| XM_011514142.1:c.2142T>C | XP_011512444.1:p.Asn714= | |
| XR_925655.1:n.2358T>C | ||
| XR_925656.1:n.2357T>C | ||
| XM_005248376.4:c.2142T>C | XP_005248433.1:p.Asn714= | |
| XM_005248377.4:c.2127T>C | XP_005248434.1:p.Asn709= | |
| XM_005248378.4:c.2142T>C | XP_005248435.1:p.Asn714= | |
| XM_011514135.3:c.2142T>C | XP_011512437.1:p.Asn714= | |
| XM_011514136.3:c.2142T>C | XP_011512438.1:p.Asn714= | |
| XM_011514137.3:c.2127T>C | XP_011512439.1:p.Asn709= | |
| XM_011514138.3:c.2142T>C | XP_011512440.1:p.Asn714= | |
| XM_011514139.3:c.2142T>C | XP_011512441.1:p.Asn714= | |
| XM_011514140.2:c.1971T>C | XP_011512442.1:p.Asn657= | |
| XM_011514141.3:c.1716T>C | XP_011512443.1:p.Asn572= | |
| XM_017009880.2:c.1956T>C | XP_016865369.1:p.Asn652= | |
| XM_017009881.2:c.1716T>C | XP_016865370.1:p.Asn572= | |
| XM_017009882.2:c.2142T>C | XP_016865371.1:p.Asn714= | |
| XM_024446219.1:c.1971T>C | XP_024301987.1:p.Asn657= | |
| XR_001742273.2:n.2245T>C | ||
| XR_001742634.1:n.1704-2461A>G | ||
| XR_001742635.1:n.1601-2461A>G | ||
| XR_001742636.1:n.1791-2461A>G | ||
| XR_925655.2:n.2245T>C | ||
| XR_925656.3:n.2245T>C | ||
| NM_024867.4:c.2142T>C MANE Select | NP_079143.3:p.Asn714= |