Linked Data
ClinVar Variation Id:
331823
dbSNP Id:
rs146201603
ExAC:
2:166755251 T / A
gnomAD v2:
2-166755251-T-A
gnomAD v3:
2-165898741-T-A
gnomAD v4:
2-165898741-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165898741T>A , CM000664.2:g.165898741T>A | GRCh38 |
| NC_000002.11:g.166755251T>A , CM000664.1:g.166755251T>A | GRCh37 |
| NC_000002.10:g.166463497T>A | NCBI36 |
| NG_030345.1:g.60098A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243344.8:c.2895A>T MANE Select | ENSP00000243344.7:p.Lys965Asn | |
| ENST00000652557.1:c.2895A>T | ENSP00000498617.1:p.Lys965Asn | |
| ENST00000679356.1:c.2895A>T | ENSP00000506245.1:p.Lys965Asn | |
| ENST00000679676.1:c.2784A>T | ENSP00000505492.1:p.Lys928Asn | |
| ENST00000679799.1:c.2895A>T | ENSP00000505208.1:p.Lys965Asn | |
| ENST00000679840.1:c.2895A>T | ENSP00000505248.1:p.Lys965Asn | |
| ENST00000679931.1:c.*1937A>T | ENSP00000505632.1:n.*1937A>T | |
| ENST00000679967.1:c.2895A>T | ENSP00000506607.1:p.Lys965Asn | |
| ENST00000680327.1:c.*1937A>T | ENSP00000506639.1:n.*1937A>T | |
| ENST00000680448.1:c.2895A>T | ENSP00000505921.1:p.Lys965Asn | |
| ENST00000680657.1:n.3006A>T | ||
| ENST00000680690.1:c.*2147A>T | ENSP00000506121.1:n.*2147A>T | |
| ENST00000680888.1:c.2895A>T | ENSP00000506276.1:p.Lys965Asn | |
| ENST00000680925.1:n.925A>T | ||
| ENST00000680947.1:c.*2167A>T | ENSP00000506496.1:n.*2167A>T | |
| ENST00000681024.1:c.2895A>T | ENSP00000506449.1:p.Lys965Asn | |
| ENST00000681083.1:c.*2629A>T | ENSP00000506095.1:n.*2629A>T | |
| ENST00000681167.1:n.2769A>T | ||
| ENST00000681483.1:c.2895A>T | ENSP00000505499.1:p.Lys965Asn | |
| ENST00000681502.1:c.*2319A>T | ENSP00000505644.1:n.*2319A>T | |
| ENST00000681606.1:c.2895A>T | ENSP00000505354.1:p.Lys965Asn | |
| ENST00000681819.1:c.2895A>T | ENSP00000505673.1:p.Lys965Asn | |
| ENST00000681952.1:c.2895A>T | ENSP00000506400.1:p.Lys965Asn | |
| ENST00000243344.7:c.2895A>T | ENSP00000243344.7:p.Lys965Asn | |
| ENST00000484129.1:n.370A>T | ||
| NM_024753.4:c.2895A>T | NP_079029.3:p.Lys965Asn | |
| XM_006712761.1:c.2895A>T | XP_006712824.1:p.Lys965Asn | |
| XM_011511870.1:c.2328A>T | XP_011510172.1:p.Lys776Asn | |
| XM_011511871.1:c.2145A>T | XP_011510173.1:p.Lys715Asn | |
| XM_011511872.1:c.*97A>T | XP_011510174.1:n.*97A>T | |
| XM_011511871.3:c.2145A>T | XP_011510173.1:p.Lys715Asn | |
| XM_011511872.2:c.*97A>T | XP_011510174.1:n.*97A>T | |
| XM_017004967.1:c.2895A>T | XP_016860456.1:p.Lys965Asn | |
| XM_017004968.2:c.2241A>T | XP_016860457.1:p.Lys747Asn | |
| XM_017004969.1:c.1896A>T | XP_016860458.1:p.Lys632Asn | |
| NM_024753.5:c.2895A>T MANE Select | NP_079029.3:p.Lys965Asn |