Linked Data
ClinVar Variation Id:
291529
dbSNP Id:
rs199835797
ExAC:
1:103470167 C / T
gnomAD v2:
1-103470167-C-T
gnomAD v3:
1-103004611-C-T
gnomAD v4:
1-103004611-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103004611C>T , CM000663.2:g.103004611C>T | GRCh38 |
| NC_000001.10:g.103470167C>T , CM000663.1:g.103470167C>T | GRCh37 |
| NC_000001.9:g.103242755C>T | NCBI36 |
| NG_008033.1:g.108886G>A | |
| NG_008033.2:g.108886G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.1896G>A MANE Select | ENSP00000359114.3:p.Met632Ile | |
| ENST00000461720.6:c.2049G>A | ENSP00000494909.1:p.Met683Ile | |
| ENST00000644186.1:c.1896G>A | ENSP00000493821.1:p.Met632Ile | |
| ENST00000645458.1:c.1896G>A | ENSP00000494179.1:p.Met632Ile | |
| ENST00000647280.1:c.1896G>A | ENSP00000494583.1:p.Met632Ile | |
| ENST00000353414.8:c.1779G>A | ENSP00000302551.6:p.Met593Ile | |
| ENST00000358392.6:c.1932G>A | ENSP00000351163.2:p.Met644Ile | |
| ENST00000370096.7:c.1896G>A | ENSP00000359114.3:p.Met632Ile | |
| ENST00000461720.5:n.244G>A | ||
| ENST00000512756.5:c.1548G>A | ENSP00000426533.1:p.Met516Ile | |
| ENST00000635193.1:c.1214G>A | ||
| NM_001190709.1:c.1779G>A | NP_001177638.1:p.Met593Ile | |
| NM_001854.3:c.1896G>A | NP_001845.3:p.Met632Ile | |
| NM_080629.2:c.1932G>A | NP_542196.2:p.Met644Ile | |
| NM_080630.3:c.1548G>A | NP_542197.3:p.Met516Ile | |
| XM_011540719.1:c.1896G>A | XP_011539021.1:p.Met632Ile | |
| XM_011540720.1:c.129G>A | XP_011539022.1:p.Met43Ile | |
| XM_011540721.1:c.-533G>A | XP_011539023.1:n.-533G>A | |
| XR_946545.1:n.2294G>A | ||
| NR_134980.1:n.2214G>A | ||
| XM_017000334.1:c.2049G>A | XP_016855823.1:p.Met683Ile | |
| XM_017000335.1:c.2043G>A | XP_016855824.1:p.Met681Ile | |
| XM_017000336.1:c.2049G>A | XP_016855825.1:p.Met683Ile | |
| XM_017000337.1:c.447G>A | XP_016855826.1:p.Met149Ile | |
| NM_001854.4:c.1896G>A MANE Select | NP_001845.3:p.Met632Ile | |
| NM_080630.4:c.1548G>A | NP_542197.3:p.Met516Ile | |
| NR_134980.2:n.2240G>A | ||
| NM_001190709.2:c.1779G>A | NP_001177638.1:p.Met593Ile | |
| NM_080629.3:c.1932G>A | NP_542196.2:p.Met644Ile |