Linked Data
ClinVar Variation Id:
2348096
ClinVar RCV Id:
RCV004184755
dbSNP Id:
rs145784812
ExAC:
7:99696308 T / C
gnomAD v2:
7-99696308-T-C
gnomAD v3:
7-100098685-T-C
gnomAD v4:
7-100098685-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100098685T>C , CM000669.2:g.100098685T>C | GRCh38 |
| NC_000007.13:g.99696308T>C , CM000669.1:g.99696308T>C | GRCh37 |
| NC_000007.12:g.99534244T>C | NCBI36 |
| NG_016312.1:g.2179T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425308.6:c.292A>G | ENSP00000411295.2:p.Met98Val | |
| ENST00000485286.6:n.1225A>G | ||
| ENST00000489841.6:n.1334A>G | ||
| ENST00000710813.1:c.292A>G | ENSP00000518500.1:p.Met98Val | |
| ENST00000710814.1:c.292A>G | ENSP00000518501.1:p.Met98Val | |
| ENST00000710815.1:c.292A>G | ENSP00000518502.1:p.Met98Val | |
| ENST00000303887.10:c.613A>G MANE Select | ENSP00000307288.5:p.Met205Val | |
| ENST00000303887.9:c.613A>G | ENSP00000307288.5:p.Met205Val | |
| ENST00000343023.10:c.613A>G | ENSP00000344006.6:p.Met205Val | |
| ENST00000354230.7:c.85A>G | ENSP00000346171.3:p.Met29Val | |
| ENST00000425308.5:c.292A>G | ENSP00000411295.1:p.Met98Val | |
| ENST00000463722.5:n.988A>G | ||
| ENST00000485286.5:n.1202A>G | ||
| ENST00000489841.5:n.764A>G | ||
| ENST00000491245.6:c.85+968A>G | ||
| ENST00000621318.4:c.85A>G | ENSP00000483795.1:p.Met29Val | |
| NM_001278595.1:c.85A>G | NP_001265524.1:p.Met29Val | |
| NM_005916.4:c.613A>G | NP_005907.3:p.Met205Val | |
| NM_182776.2:c.85A>G | NP_877577.1:p.Met29Val | |
| XM_005250348.2:c.292A>G | XP_005250405.1:p.Met98Val | |
| XM_005250348.3:c.292A>G | XP_005250405.1:p.Met98Val | |
| XM_017012217.2:c.292A>G | XP_016867706.1:p.Met98Val | |
| NM_001278595.2:c.85A>G | NP_001265524.1:p.Met29Val | |
| NM_005916.5:c.613A>G MANE Select | NP_005907.3:p.Met205Val | |
| NM_182776.3:c.85A>G | NP_877577.1:p.Met29Val |