Linked Data
ClinVar Variation Id:
2442645
ClinVar RCV Id:
RCV003149417
dbSNP Id:
rs138760604
ExAC:
1:11856330 C / T
gnomAD v2:
1-11856330-C-T
gnomAD v3:
1-11796273-C-T
gnomAD v4:
1-11796273-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11796273C>T , CM000663.2:g.11796273C>T | GRCh38 |
| NC_000001.10:g.11856330C>T , CM000663.1:g.11856330C>T | GRCh37 |
| NC_000001.9:g.11778917C>T | NCBI36 |
| NG_013351.1:g.14831G>A , LRG_726:g.14831G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376585.6:c.836G>A | ENSP00000365770.1:p.Arg279His | |
| ENST00000376590.9:c.713G>A MANE Select | ENSP00000365775.3:p.Arg238His | |
| ENST00000376592.6:c.713G>A | ENSP00000365777.1:p.Arg238His | |
| ENST00000423400.7:c.833G>A | ENSP00000398908.3:p.Arg278His | |
| ENST00000641407.1:c.713G>A | ENSP00000493098.1:p.Arg238His | |
| ENST00000641446.1:c.713G>A | ENSP00000493262.1:p.Arg238His | |
| ENST00000641721.1:n.644-925G>A | ||
| ENST00000641747.1:c.*225G>A | ENSP00000493116.1:n.*225G>A | |
| ENST00000641759.1:n.848G>A | ||
| ENST00000641805.1:n.996G>A | ||
| ENST00000641820.1:c.-23G>A | ENSP00000492937.1:n.-23G>A | |
| ENST00000376583.7:c.836G>A | ENSP00000365767.3:p.Arg279His | |
| ENST00000376585.5:c.836G>A | ENSP00000365770.1:p.Arg279His | |
| ENST00000376590.7:c.713G>A | ENSP00000365775.3:p.Arg238His | |
| ENST00000376592.5:c.713G>A | ENSP00000365777.1:p.Arg238His | |
| NM_005957.4:c.713G>A , LRG_726t1:c.713G>A | NP_005948.3:p.Arg238His | |
| XM_005263458.2:c.836G>A | XP_005263515.1:p.Arg279His | |
| XM_005263460.3:c.713G>A | XP_005263517.1:p.Arg238His | |
| XM_005263461.3:c.713G>A | XP_005263518.1:p.Arg238His | |
| XM_005263462.3:c.713G>A | XP_005263519.1:p.Arg238His | |
| XM_005263463.2:c.467G>A | XP_005263520.1:p.Arg156His | |
| XM_011541495.1:c.833G>A | XP_011539797.1:p.Arg278His | |
| XM_011541496.1:c.836G>A | XP_011539798.1:p.Arg279His | |
| NM_001330358.1:c.836G>A | NP_001317287.1:p.Arg279His | |
| XM_005263460.5:c.713G>A | XP_005263517.1:p.Arg238His | |
| XM_005263462.4:c.713G>A | XP_005263519.1:p.Arg238His | |
| XM_005263463.4:c.467G>A | XP_005263520.1:p.Arg156His | |
| XM_011541495.3:c.833G>A | XP_011539797.1:p.Arg278His | |
| XM_011541496.3:c.836G>A | XP_011539798.1:p.Arg279His | |
| XM_017001328.2:c.836G>A | XP_016856817.1:p.Arg279His | |
| XM_024447198.1:c.467G>A | XP_024302966.1:p.Arg156His | |
| XR_002956640.1:n.1580G>A | ||
| NM_005957.5:c.713G>A MANE Select | NP_005948.3:p.Arg238His | |
| NM_001330358.2:c.836G>A | NP_001317287.1:p.Arg279His |