Linked Data
ClinVar Variation Id:
91
ClinVar RCV Id:
RCV000000111
dbSNP Id:
rs137853593
gnomAD v4:
8-18061724-G-T
PubMed:
PMID:8955159
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18061724G>T , CM000670.2:g.18061724G>T | GRCh38 |
| NC_000008.10:g.17919233G>T , CM000670.1:g.17919233G>T | GRCh37 |
| NC_000008.9:g.17963513G>T | NCBI36 |
| NG_008985.1:g.28275C>A | |
| NG_008985.2:g.28275C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381733.9:c.713C>A | ENSP00000371152.4:p.Thr238Lys | |
| ENST00000517409.2:n.633C>A | ||
| ENST00000518746.2:n.2124C>A | ||
| ENST00000519545.6:n.682C>A | ||
| ENST00000520781.6:c.590C>A | ENSP00000427751.1:p.Thr197Lys | |
| ENST00000635756.1:c.87C>A | ||
| ENST00000635944.1:c.*501C>A | ENSP00000490195.1:n.*501C>A | |
| ENST00000635998.1:c.665C>A | ENSP00000490506.1:p.Thr222Lys | |
| ENST00000636009.1:c.522C>A | ENSP00000489988.1:n.522C>A | |
| ENST00000636033.1:c.*501C>A | ENSP00000489617.1:n.*501C>A | |
| ENST00000636050.1:c.*508C>A | ENSP00000490562.1:n.*508C>A | |
| ENST00000636128.1:c.383-266C>A | ENSP00000489789.1:n.383-266C>A | |
| ENST00000636160.1:c.*557C>A | ENSP00000489651.1:n.*557C>A | |
| ENST00000636171.1:c.608C>A | ENSP00000489761.1:p.Thr203Lys | |
| ENST00000636455.1:c.713C>A | ENSP00000490502.1:p.Thr238Lys | |
| ENST00000636494.1:c.*445C>A | ENSP00000490388.1:n.*445C>A | |
| ENST00000636563.1:n.327C>A | ||
| ENST00000636577.1:c.605C>A | ENSP00000490027.1:p.Thr202Lys | |
| ENST00000636691.1:c.470C>A | ENSP00000490725.1:p.Thr157Lys | |
| ENST00000636701.1:c.*316C>A | ENSP00000489800.1:n.*316C>A | |
| ENST00000636719.1:n.490C>A | ||
| ENST00000636815.1:c.582C>A | ||
| ENST00000636920.1:c.*501C>A | ENSP00000490437.1:n.*501C>A | |
| ENST00000636997.1:c.578C>A | ENSP00000490093.1:p.Thr193Lys | |
| ENST00000637013.1:c.*1033C>A | ENSP00000490596.1:n.*1033C>A | |
| ENST00000637014.1:n.1072C>A | ||
| ENST00000637095.1:c.*445C>A | ENSP00000490415.1:n.*445C>A | |
| ENST00000637244.1:c.*1183C>A | ENSP00000490188.1:n.*1183C>A | |
| ENST00000637343.1:n.2102C>A | ||
| ENST00000637429.1:c.*877C>A | ENSP00000490522.1:n.*877C>A | |
| ENST00000637484.1:c.*627C>A | ENSP00000490837.1:n.*627C>A | |
| ENST00000637528.1:c.602C>A | ENSP00000490801.1:p.Thr201Lys | |
| ENST00000637609.1:n.3386C>A | ||
| ENST00000637636.1:c.659C>A | ENSP00000490112.1:p.Thr220Lys | |
| ENST00000637790.2:c.665C>A MANE Select | ENSP00000490272.1:p.Thr222Lys | |
| ENST00000637857.1:n.804C>A | ||
| ENST00000637922.1:c.470C>A | ENSP00000490071.1:p.Thr157Lys | |
| ENST00000637991.1:c.638C>A | ENSP00000489901.1:p.Thr213Lys | |
| ENST00000638028.1:n.882C>A | ||
| ENST00000638069.1:n.1259C>A | ||
| ENST00000262097.10:c.665C>A | ENSP00000262097.6:p.Thr222Lys | |
| ENST00000314146.10:c.647C>A | ENSP00000326970.10:p.Thr216Lys | |
| ENST00000381733.8:c.713C>A | ENSP00000371152.4:p.Thr238Lys | |
| ENST00000518746.1:n.482C>A | ||
| ENST00000519468.5:n.494C>A | ||
| ENST00000520781.5:c.590C>A | ENSP00000427751.1:p.Thr197Lys | |
| ENST00000521542.1:n.151C>A | ||
| ENST00000523593.5:n.518C>A | ||
| NM_001127505.1:c.647C>A | NP_001120977.1:p.Thr216Lys | |
| NM_001127505.2:c.647C>A | NP_001120977.1:p.Thr216Lys | |
| NM_004315.4:c.713C>A | NP_004306.3:p.Thr238Lys | |
| NM_004315.5:c.713C>A | NP_004306.3:p.Thr238Lys | |
| NM_177924.3:c.665C>A | NP_808592.2:p.Thr222Lys | |
| NM_177924.4:c.665C>A | NP_808592.2:p.Thr222Lys | |
| XM_005273504.2:c.599C>A | XP_005273561.1:p.Thr200Lys | |
| NM_001363743.1:c.470C>A | NP_001350672.1:p.Thr157Lys | |
| XM_005273504.3:c.599C>A | XP_005273561.1:p.Thr200Lys | |
| NM_177924.5:c.665C>A MANE Select | NP_808592.2:p.Thr222Lys | |
| NM_001127505.3:c.647C>A | NP_001120977.1:p.Thr216Lys | |
| NM_001363743.2:c.470C>A | NP_001350672.1:p.Thr157Lys | |
| NM_004315.6:c.713C>A | NP_004306.3:p.Thr238Lys |