Linked Data
ClinVar Variation Id:
1168615
ClinVar RCV Id:
RCV001519006
dbSNP Id:
rs370895103
ExAC:
8:17918921 C / A
gnomAD v2:
8-17918921-C-A
gnomAD v3:
8-18061412-C-A
gnomAD v4:
8-18061412-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18061412C>A , CM000670.2:g.18061412C>A | GRCh38 |
| NC_000008.10:g.17918921C>A , CM000670.1:g.17918921C>A | GRCh37 |
| NC_000008.9:g.17963201C>A | NCBI36 |
| NG_008985.1:g.28587G>T | |
| NG_008985.2:g.28587G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381733.9:c.798G>T | ENSP00000371152.4:p.Gly266= | |
| ENST00000517409.2:n.718G>T | ||
| ENST00000518746.2:n.2436G>T | ||
| ENST00000519545.6:n.767G>T | ||
| ENST00000520781.6:c.675G>T | ENSP00000427751.1:p.Gly225= | |
| ENST00000521542.2:n.58G>T | ||
| ENST00000635756.1:c.163G>T | ||
| ENST00000635944.1:c.*586G>T | ENSP00000490195.1:n.*586G>T | |
| ENST00000635998.1:c.750G>T | ENSP00000490506.1:p.Gly250= | |
| ENST00000636009.1:c.607G>T | ENSP00000489988.1:n.607G>T | |
| ENST00000636033.1:c.*586G>T | ENSP00000489617.1:n.*586G>T | |
| ENST00000636050.1:c.*593G>T | ENSP00000490562.1:n.*593G>T | |
| ENST00000636128.1:c.429G>T | ENSP00000489789.1:p.Gly143= | |
| ENST00000636160.1:c.*642G>T | ENSP00000489651.1:n.*642G>T | |
| ENST00000636171.1:c.693G>T | ENSP00000489761.1:p.Gly231= | |
| ENST00000636455.1:c.798G>T | ENSP00000490502.1:p.Gly266= | |
| ENST00000636494.1:c.*530G>T | ENSP00000490388.1:n.*530G>T | |
| ENST00000636563.1:n.412G>T | ||
| ENST00000636577.1:c.690G>T | ENSP00000490027.1:p.Gly230= | |
| ENST00000636691.1:c.555G>T | ENSP00000490725.1:p.Gly185= | |
| ENST00000636701.1:c.*401G>T | ENSP00000489800.1:n.*401G>T | |
| ENST00000636815.1:c.667G>T | ||
| ENST00000636920.1:c.*586G>T | ENSP00000490437.1:n.*586G>T | |
| ENST00000636997.1:c.663G>T | ENSP00000490093.1:p.Gly221= | |
| ENST00000637013.1:c.*1118G>T | ENSP00000490596.1:n.*1118G>T | |
| ENST00000637014.1:n.1157G>T | ||
| ENST00000637095.1:c.*530G>T | ENSP00000490415.1:n.*530G>T | |
| ENST00000637244.1:c.*1268G>T | ENSP00000490188.1:n.*1268G>T | |
| ENST00000637343.1:n.2187G>T | ||
| ENST00000637429.1:c.*962G>T | ENSP00000490522.1:n.*962G>T | |
| ENST00000637484.1:c.*712G>T | ENSP00000490837.1:n.*712G>T | |
| ENST00000637528.1:c.687G>T | ENSP00000490801.1:p.Gly229= | |
| ENST00000637609.1:n.3471G>T | ||
| ENST00000637636.1:c.744G>T | ENSP00000490112.1:p.Gly248= | |
| ENST00000637790.2:c.750G>T MANE Select | ENSP00000490272.1:p.Gly250= | |
| ENST00000637857.1:n.1116G>T | ||
| ENST00000637922.1:c.555G>T | ENSP00000490071.1:p.Gly185= | |
| ENST00000637991.1:c.723G>T | ENSP00000489901.1:p.Gly241= | |
| ENST00000638028.1:n.967G>T | ||
| ENST00000638069.1:n.1571G>T | ||
| ENST00000262097.10:c.750G>T | ENSP00000262097.6:p.Gly250= | |
| ENST00000314146.10:c.732G>T | ENSP00000326970.10:p.Gly244= | |
| ENST00000381733.8:c.798G>T | ENSP00000371152.4:p.Gly266= | |
| ENST00000518746.1:n.567G>T | ||
| ENST00000519468.5:n.579G>T | ||
| ENST00000520781.5:c.675G>T | ENSP00000427751.1:p.Gly225= | |
| ENST00000521542.1:n.463G>T | ||
| NM_001127505.1:c.732G>T | NP_001120977.1:p.Gly244= | |
| NM_001127505.2:c.732G>T | NP_001120977.1:p.Gly244= | |
| NM_004315.4:c.798G>T | NP_004306.3:p.Gly266= | |
| NM_004315.5:c.798G>T | NP_004306.3:p.Gly266= | |
| NM_177924.3:c.750G>T | NP_808592.2:p.Gly250= | |
| NM_177924.4:c.750G>T | NP_808592.2:p.Gly250= | |
| XM_005273504.2:c.684G>T | XP_005273561.1:p.Gly228= | |
| NM_001363743.1:c.555G>T | NP_001350672.1:p.Gly185= | |
| XM_005273504.3:c.684G>T | XP_005273561.1:p.Gly228= | |
| NM_177924.5:c.750G>T MANE Select | NP_808592.2:p.Gly250= | |
| NM_001127505.3:c.732G>T | NP_001120977.1:p.Gly244= | |
| NM_001363743.2:c.555G>T | NP_001350672.1:p.Gly185= | |
| NM_004315.6:c.798G>T | NP_004306.3:p.Gly266= |