Linked Data
ClinVar Variation Id:
187906
ClinVar RCV Id:
RCV000167626
dbSNP Id:
rs768434408
ExAC:
1:11850739 A / G
gnomAD v2:
1-11850739-A-G
gnomAD v3:
1-11790682-A-G
gnomAD v4:
1-11790682-A-G
PubMed:
PMID:25736335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11790682A>G , CM000663.2:g.11790682A>G | GRCh38 |
| NC_000001.10:g.11850739A>G , CM000663.1:g.11850739A>G | GRCh37 |
| NC_000001.9:g.11773326A>G | NCBI36 |
| NG_013351.1:g.20422T>C , LRG_726:g.20422T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376585.6:c.2092T>C | ENSP00000365770.1:p.Ter698Arg | |
| ENST00000376590.9:c.1969T>C MANE Select | ENSP00000365775.3:p.Ter657Arg | |
| ENST00000376592.6:c.1969T>C | ENSP00000365777.1:p.Ter657Arg | |
| ENST00000423400.7:c.2089T>C | ENSP00000398908.3:p.Ter697Arg | |
| ENST00000641407.1:c.1787T>C | ENSP00000493098.1:p.Met596Thr | |
| ENST00000641446.1:c.*428T>C | ENSP00000493262.1:n.*428T>C | |
| ENST00000641747.1:c.*1481T>C | ENSP00000493116.1:n.*1481T>C | |
| ENST00000641759.1:n.2338T>C | ||
| ENST00000641805.1:n.2304T>C | ||
| ENST00000641820.1:c.1234T>C | ENSP00000492937.1:p.Ter412Arg | |
| ENST00000376583.7:c.2092T>C | ENSP00000365767.3:p.Ter698Arg | |
| ENST00000376585.5:c.2092T>C | ENSP00000365770.1:p.Ter698Arg | |
| ENST00000376590.7:c.1969T>C | ENSP00000365775.3:p.Ter657Arg | |
| ENST00000376592.5:c.1969T>C | ENSP00000365777.1:p.Ter657Arg | |
| NM_005957.4:c.1969T>C , LRG_726t1:c.1969T>C | NP_005948.3:p.Ter657Arg | |
| XM_005263458.2:c.2092T>C | XP_005263515.1:p.Ter698Arg | |
| XM_005263460.3:c.1969T>C | XP_005263517.1:p.Ter657Arg | |
| XM_005263461.3:c.1969T>C | XP_005263518.1:p.Ter657Arg | |
| XM_005263462.3:c.1969T>C | XP_005263519.1:p.Ter657Arg | |
| XM_005263463.2:c.1723T>C | XP_005263520.1:p.Ter575Arg | |
| XM_011541495.1:c.2089T>C | XP_011539797.1:p.Ter697Arg | |
| XM_011541496.1:c.1910T>C | XP_011539798.1:p.Met637Thr | |
| NM_001330358.1:c.2092T>C | NP_001317287.1:p.Ter698Arg | |
| XM_005263460.5:c.1969T>C | XP_005263517.1:p.Ter657Arg | |
| XM_005263462.4:c.1969T>C | XP_005263519.1:p.Ter657Arg | |
| XM_005263463.4:c.1723T>C | XP_005263520.1:p.Ter575Arg | |
| XM_011541495.3:c.2089T>C | XP_011539797.1:p.Ter697Arg | |
| XM_011541496.3:c.1910T>C | XP_011539798.1:p.Met637Thr | |
| XM_017001328.2:c.1942T>C | XP_016856817.1:p.Ter648Arg | |
| XM_024447198.1:c.1723T>C | XP_024302966.1:p.Ter575Arg | |
| XR_002956640.1:n.2888T>C | ||
| NM_005957.5:c.1969T>C MANE Select | NP_005948.3:p.Ter657Arg | |
| NM_001330358.2:c.2092T>C | NP_001317287.1:p.Ter698Arg |