Linked Data
ClinVar Variation Id:
331830
dbSNP Id:
rs368202285
ExAC:
2:166771749 C / T
gnomAD v2:
2-166771749-C-T
gnomAD v3:
2-165915239-C-T
gnomAD v4:
2-165915239-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165915239C>T , CM000664.2:g.165915239C>T | GRCh38 |
| NC_000002.11:g.166771749C>T , CM000664.1:g.166771749C>T | GRCh37 |
| NC_000002.10:g.166479995C>T | NCBI36 |
| NG_030345.1:g.43600G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243344.8:c.2100G>A MANE Select | ENSP00000243344.7:p.Lys700= | |
| ENST00000652557.1:c.2100G>A | ENSP00000498617.1:p.Lys700= | |
| ENST00000679356.1:c.2100G>A | ENSP00000506245.1:p.Lys700= | |
| ENST00000679671.1:n.2213G>A | ||
| ENST00000679676.1:c.1989G>A | ENSP00000505492.1:p.Lys663= | |
| ENST00000679799.1:c.2100G>A | ENSP00000505208.1:p.Lys700= | |
| ENST00000679840.1:c.2100G>A | ENSP00000505248.1:p.Lys700= | |
| ENST00000679931.1:c.*1142G>A | ENSP00000505632.1:n.*1142G>A | |
| ENST00000679967.1:c.2100G>A | ENSP00000506607.1:p.Lys700= | |
| ENST00000680327.1:c.*1142G>A | ENSP00000506639.1:n.*1142G>A | |
| ENST00000680448.1:c.2100G>A | ENSP00000505921.1:p.Lys700= | |
| ENST00000680657.1:n.2211G>A | ||
| ENST00000680690.1:c.*1352G>A | ENSP00000506121.1:n.*1352G>A | |
| ENST00000680888.1:c.2100G>A | ENSP00000506276.1:p.Lys700= | |
| ENST00000680947.1:c.*1372G>A | ENSP00000506496.1:n.*1372G>A | |
| ENST00000681024.1:c.2100G>A | ENSP00000506449.1:p.Lys700= | |
| ENST00000681083.1:c.*1834G>A | ENSP00000506095.1:n.*1834G>A | |
| ENST00000681167.1:n.1974G>A | ||
| ENST00000681483.1:c.2100G>A | ENSP00000505499.1:p.Lys700= | |
| ENST00000681502.1:c.*1524G>A | ENSP00000505644.1:n.*1524G>A | |
| ENST00000681606.1:c.2100G>A | ENSP00000505354.1:p.Lys700= | |
| ENST00000681819.1:c.2100G>A | ENSP00000505673.1:p.Lys700= | |
| ENST00000681952.1:c.2100G>A | ENSP00000506400.1:p.Lys700= | |
| ENST00000243344.7:c.2100G>A | ENSP00000243344.7:p.Lys700= | |
| NM_024753.4:c.2100G>A | NP_079029.3:p.Lys700= | |
| XM_006712761.1:c.2100G>A | XP_006712824.1:p.Lys700= | |
| XM_011511870.1:c.1533G>A | XP_011510172.1:p.Lys511= | |
| XM_011511871.1:c.1350G>A | XP_011510173.1:p.Lys450= | |
| XM_011511872.1:c.2100G>A | XP_011510174.1:p.Lys700= | |
| XM_011511871.3:c.1350G>A | XP_011510173.1:p.Lys450= | |
| XM_011511872.2:c.2100G>A | XP_011510174.1:p.Lys700= | |
| XM_017004967.1:c.2100G>A | XP_016860456.1:p.Lys700= | |
| XM_017004968.2:c.1446G>A | XP_016860457.1:p.Lys482= | |
| XM_017004969.1:c.1101G>A | XP_016860458.1:p.Lys367= | |
| NM_024753.5:c.2100G>A MANE Select | NP_079029.3:p.Lys700= |