Linked Data
ClinVar Variation Id:
504083
dbSNP Id:
rs776734688
ExAC:
1:11863173 T / C
gnomAD v2:
1-11863173-T-C
gnomAD v4:
1-11803116-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11803116T>C , CM000663.2:g.11803116T>C | GRCh38 |
| NC_000001.10:g.11863173T>C , CM000663.1:g.11863173T>C | GRCh37 |
| NC_000001.9:g.11785760T>C | NCBI36 |
| NG_008766.1:g.1967T>C | |
| NG_013351.1:g.7988A>G , LRG_726:g.7988A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376486.3:c.1A>G | ENSP00000365669.3:p.Met1Val | |
| ENST00000376585.6:c.124A>G | ENSP00000365770.1:p.Met42Val | |
| ENST00000376590.9:c.1A>G MANE Select | ENSP00000365775.3:p.Met1Val | |
| ENST00000376592.6:c.1A>G | ENSP00000365777.1:p.Met1Val | |
| ENST00000423400.7:c.121A>G | ENSP00000398908.3:p.Met41Val | |
| ENST00000431243.6:n.782A>G | ||
| ENST00000641407.1:c.1A>G | ENSP00000493098.1:p.Met1Val | |
| ENST00000641437.1:n.133A>G | ||
| ENST00000641446.1:c.1A>G | ENSP00000493262.1:p.Met1Val | |
| ENST00000641721.1:n.58A>G | ||
| ENST00000641747.1:c.1A>G | ENSP00000493116.1:p.Met1Val | |
| ENST00000641759.1:n.136A>G | ||
| ENST00000641805.1:n.284A>G | ||
| ENST00000641909.1:n.411A>G | ||
| ENST00000642002.1:n.230A>G | ||
| ENST00000376486.2:c.1A>G | ENSP00000365669.2:p.Met1Val | |
| ENST00000376583.7:c.124A>G | ENSP00000365767.3:p.Met42Val | |
| ENST00000376585.5:c.124A>G | ENSP00000365770.1:p.Met42Val | |
| ENST00000376590.7:c.1A>G | ENSP00000365775.3:p.Met1Val | |
| ENST00000376592.5:c.1A>G | ENSP00000365777.1:p.Met1Val | |
| ENST00000413656.5:c.1A>G | ENSP00000408307.1:p.Met1Val | |
| ENST00000418034.1:c.1A>G | ENSP00000405082.1:p.Met1Val | |
| ENST00000423400.5:c.70A>G | ENSP00000398908.1:p.Met24Val | |
| ENST00000431243.5:c.1A>G | ENSP00000400460.1:p.Met1Val | |
| NM_005957.4:c.1A>G , LRG_726t1:c.1A>G | NP_005948.3:p.Met1Val | |
| XM_005263458.2:c.124A>G | XP_005263515.1:p.Met42Val | |
| XM_005263460.3:c.1A>G | XP_005263517.1:p.Met1Val | |
| XM_005263461.3:c.1A>G | XP_005263518.1:p.Met1Val | |
| XM_005263462.3:c.1A>G | XP_005263519.1:p.Met1Val | |
| XM_005263463.2:c.-263A>G | XP_005263520.1:n.-263A>G | |
| XM_011541495.1:c.121A>G | XP_011539797.1:p.Met41Val | |
| XM_011541496.1:c.124A>G | XP_011539798.1:p.Met42Val | |
| NM_001330358.1:c.124A>G | NP_001317287.1:p.Met42Val | |
| XM_005263460.5:c.1A>G | XP_005263517.1:p.Met1Val | |
| XM_005263462.4:c.1A>G | XP_005263519.1:p.Met1Val | |
| XM_005263463.4:c.-263A>G | XP_005263520.1:n.-263A>G | |
| XM_011541495.3:c.121A>G | XP_011539797.1:p.Met41Val | |
| XM_011541496.3:c.124A>G | XP_011539798.1:p.Met42Val | |
| XM_017001328.2:c.124A>G | XP_016856817.1:p.Met42Val | |
| XM_024447198.1:c.-263A>G | XP_024302966.1:n.-263A>G | |
| XR_002956640.1:n.868A>G | ||
| NM_005957.5:c.1A>G MANE Select | NP_005948.3:p.Met1Val | |
| NM_001330358.2:c.124A>G | NP_001317287.1:p.Met42Val |