Linked Data
ClinVar Variation Id:
501216
dbSNP Id:
rs373076763
ExAC:
1:11863171 C / G
gnomAD v2:
1-11863171-C-G
gnomAD v3:
1-11803114-C-G
gnomAD v4:
1-11803114-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11803114C>G , CM000663.2:g.11803114C>G | GRCh38 |
| NC_000001.10:g.11863171C>G , CM000663.1:g.11863171C>G | GRCh37 |
| NC_000001.9:g.11785758C>G | NCBI36 |
| NG_008766.1:g.1965C>G | |
| NG_013351.1:g.7990G>C , LRG_726:g.7990G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376486.3:c.3G>C | ENSP00000365669.3:p.Met1Ile | |
| ENST00000376585.6:c.126G>C | ENSP00000365770.1:p.Met42Ile | |
| ENST00000376590.9:c.3G>C MANE Select | ENSP00000365775.3:p.Met1Ile | |
| ENST00000376592.6:c.3G>C | ENSP00000365777.1:p.Met1Ile | |
| ENST00000423400.7:c.123G>C | ENSP00000398908.3:p.Met41Ile | |
| ENST00000431243.6:n.784G>C | ||
| ENST00000641407.1:c.3G>C | ENSP00000493098.1:p.Met1Ile | |
| ENST00000641437.1:n.135G>C | ||
| ENST00000641446.1:c.3G>C | ENSP00000493262.1:p.Met1Ile | |
| ENST00000641721.1:n.60G>C | ||
| ENST00000641747.1:c.3G>C | ENSP00000493116.1:p.Met1Ile | |
| ENST00000641759.1:n.138G>C | ||
| ENST00000641805.1:n.286G>C | ||
| ENST00000641909.1:n.413G>C | ||
| ENST00000642002.1:n.232G>C | ||
| ENST00000376486.2:c.3G>C | ENSP00000365669.2:p.Met1Ile | |
| ENST00000376583.7:c.126G>C | ENSP00000365767.3:p.Met42Ile | |
| ENST00000376585.5:c.126G>C | ENSP00000365770.1:p.Met42Ile | |
| ENST00000376590.7:c.3G>C | ENSP00000365775.3:p.Met1Ile | |
| ENST00000376592.5:c.3G>C | ENSP00000365777.1:p.Met1Ile | |
| ENST00000413656.5:c.3G>C | ENSP00000408307.1:p.Met1Ile | |
| ENST00000418034.1:c.3G>C | ENSP00000405082.1:p.Met1Ile | |
| ENST00000423400.5:c.72G>C | ENSP00000398908.1:p.Met24Ile | |
| ENST00000431243.5:c.3G>C | ENSP00000400460.1:p.Met1Ile | |
| NM_005957.4:c.3G>C , LRG_726t1:c.3G>C | NP_005948.3:p.Met1Ile | |
| XM_005263458.2:c.126G>C | XP_005263515.1:p.Met42Ile | |
| XM_005263460.3:c.3G>C | XP_005263517.1:p.Met1Ile | |
| XM_005263461.3:c.3G>C | XP_005263518.1:p.Met1Ile | |
| XM_005263462.3:c.3G>C | XP_005263519.1:p.Met1Ile | |
| XM_005263463.2:c.-261G>C | XP_005263520.1:n.-261G>C | |
| XM_011541495.1:c.123G>C | XP_011539797.1:p.Met41Ile | |
| XM_011541496.1:c.126G>C | XP_011539798.1:p.Met42Ile | |
| NM_001330358.1:c.126G>C | NP_001317287.1:p.Met42Ile | |
| XM_005263460.5:c.3G>C | XP_005263517.1:p.Met1Ile | |
| XM_005263462.4:c.3G>C | XP_005263519.1:p.Met1Ile | |
| XM_005263463.4:c.-261G>C | XP_005263520.1:n.-261G>C | |
| XM_011541495.3:c.123G>C | XP_011539797.1:p.Met41Ile | |
| XM_011541496.3:c.126G>C | XP_011539798.1:p.Met42Ile | |
| XM_017001328.2:c.126G>C | XP_016856817.1:p.Met42Ile | |
| XM_024447198.1:c.-261G>C | XP_024302966.1:n.-261G>C | |
| XR_002956640.1:n.870G>C | ||
| NM_005957.5:c.3G>C MANE Select | NP_005948.3:p.Met1Ile | |
| NM_001330358.2:c.126G>C | NP_001317287.1:p.Met42Ile |