Linked Data
ClinVar Variation Id:
528909
dbSNP Id:
rs200255917
ExAC:
2:166789495 C / A
gnomAD v2:
2-166789495-C-A
gnomAD v3:
2-165932985-C-A
gnomAD v4:
2-165932985-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165932985C>A , CM000664.2:g.165932985C>A | GRCh38 |
| NC_000002.11:g.166789495C>A , CM000664.1:g.166789495C>A | GRCh37 |
| NC_000002.10:g.166497741C>A | NCBI36 |
| NG_030345.1:g.25854G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243344.8:c.783G>T MANE Select | ENSP00000243344.7:p.Gly261= | |
| ENST00000652557.1:c.783G>T | ENSP00000498617.1:p.Gly261= | |
| ENST00000679356.1:c.783G>T | ENSP00000506245.1:p.Gly261= | |
| ENST00000679671.1:n.896G>T | ||
| ENST00000679676.1:c.672G>T | ENSP00000505492.1:p.Gly224= | |
| ENST00000679799.1:c.783G>T | ENSP00000505208.1:p.Gly261= | |
| ENST00000679840.1:c.783G>T | ENSP00000505248.1:p.Gly261= | |
| ENST00000679931.1:c.783G>T | ENSP00000505632.1:p.Gly261= | |
| ENST00000679967.1:c.783G>T | ENSP00000506607.1:p.Gly261= | |
| ENST00000680327.1:c.783G>T | ENSP00000506639.1:p.Gly261= | |
| ENST00000680448.1:c.783G>T | ENSP00000505921.1:p.Gly261= | |
| ENST00000680657.1:n.894G>T | ||
| ENST00000680690.1:c.*35G>T | ENSP00000506121.1:n.*35G>T | |
| ENST00000680698.1:n.4687G>T | ||
| ENST00000680888.1:c.783G>T | ENSP00000506276.1:p.Gly261= | |
| ENST00000680947.1:c.*55G>T | ENSP00000506496.1:n.*55G>T | |
| ENST00000681024.1:c.783G>T | ENSP00000506449.1:p.Gly261= | |
| ENST00000681083.1:c.*517G>T | ENSP00000506095.1:n.*517G>T | |
| ENST00000681167.1:n.657G>T | ||
| ENST00000681483.1:c.783G>T | ENSP00000505499.1:p.Gly261= | |
| ENST00000681502.1:c.*207G>T | ENSP00000505644.1:n.*207G>T | |
| ENST00000681606.1:c.783G>T | ENSP00000505354.1:p.Gly261= | |
| ENST00000681819.1:c.783G>T | ENSP00000505673.1:p.Gly261= | |
| ENST00000681952.1:c.783G>T | ENSP00000506400.1:p.Gly261= | |
| ENST00000243344.7:c.783G>T | ENSP00000243344.7:p.Gly261= | |
| ENST00000464374.5:n.823G>T | ||
| NM_024753.4:c.783G>T | NP_079029.3:p.Gly261= | |
| XM_006712761.1:c.783G>T | XP_006712824.1:p.Gly261= | |
| XM_011511870.1:c.216G>T | XP_011510172.1:p.Gly72= | |
| XM_011511871.1:c.33G>T | XP_011510173.1:p.Gly11= | |
| XM_011511872.1:c.783G>T | XP_011510174.1:p.Gly261= | |
| XM_011511871.3:c.33G>T | XP_011510173.1:p.Gly11= | |
| XM_011511872.2:c.783G>T | XP_011510174.1:p.Gly261= | |
| XM_017004967.1:c.783G>T | XP_016860456.1:p.Gly261= | |
| XM_017004968.2:c.129G>T | XP_016860457.1:p.Gly43= | |
| XM_017004969.1:c.-234G>T | XP_016860458.1:n.-234G>T | |
| NM_024753.5:c.783G>T MANE Select | NP_079029.3:p.Gly261= |