Linked Data
ClinVar Variation Id:
2841512
ClinVar RCV Id:
RCV003637813
dbSNP Id:
rs1644375767
gnomAD v3:
1-11801189-G-A
gnomAD v4:
1-11801189-G-A
MyVariant Identifiers:
chr1:g.11861246G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11801189G>A , CM000663.2:g.11801189G>A | GRCh38 |
| NC_000001.10:g.11861246G>A , CM000663.1:g.11861246G>A | GRCh37 |
| NC_000001.9:g.11783833G>A | NCBI36 |
| NG_008766.1:g.40G>A | |
| NG_013351.1:g.9915C>T , LRG_726:g.9915C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376486.3:c.447C>T | ENSP00000365669.3:p.Gly149= | |
| ENST00000376585.6:c.570C>T | ENSP00000365770.1:p.Gly190= | |
| ENST00000376590.9:c.447C>T MANE Select | ENSP00000365775.3:p.Gly149= | |
| ENST00000376592.6:c.447C>T | ENSP00000365777.1:p.Gly149= | |
| ENST00000423400.7:c.567C>T | ENSP00000398908.3:p.Gly189= | |
| ENST00000641407.1:c.447C>T | ENSP00000493098.1:p.Gly149= | |
| ENST00000641437.1:n.579C>T | ||
| ENST00000641446.1:c.447C>T | ENSP00000493262.1:p.Gly149= | |
| ENST00000641721.1:n.504C>T | ||
| ENST00000641747.1:c.237-867C>T | ENSP00000493116.1:n.237-867C>T | |
| ENST00000641759.1:n.582C>T | ||
| ENST00000641805.1:n.730C>T | ||
| ENST00000641909.1:n.857C>T | ||
| ENST00000376583.7:c.570C>T | ENSP00000365767.3:p.Gly190= | |
| ENST00000376585.5:c.570C>T | ENSP00000365770.1:p.Gly190= | |
| ENST00000376590.7:c.447C>T | ENSP00000365775.3:p.Gly149= | |
| ENST00000376592.5:c.447C>T | ENSP00000365777.1:p.Gly149= | |
| NM_005957.4:c.447C>T , LRG_726t1:c.447C>T | NP_005948.3:p.Gly149= | |
| XM_005263458.2:c.570C>T | XP_005263515.1:p.Gly190= | |
| XM_005263460.3:c.447C>T | XP_005263517.1:p.Gly149= | |
| XM_005263461.3:c.447C>T | XP_005263518.1:p.Gly149= | |
| XM_005263462.3:c.447C>T | XP_005263519.1:p.Gly149= | |
| XM_005263463.2:c.201C>T | XP_005263520.1:p.Gly67= | |
| XM_011541495.1:c.567C>T | XP_011539797.1:p.Gly189= | |
| XM_011541496.1:c.570C>T | XP_011539798.1:p.Gly190= | |
| NM_001330358.1:c.570C>T | NP_001317287.1:p.Gly190= | |
| XM_005263460.5:c.447C>T | XP_005263517.1:p.Gly149= | |
| XM_005263462.4:c.447C>T | XP_005263519.1:p.Gly149= | |
| XM_005263463.4:c.201C>T | XP_005263520.1:p.Gly67= | |
| XM_011541495.3:c.567C>T | XP_011539797.1:p.Gly189= | |
| XM_011541496.3:c.570C>T | XP_011539798.1:p.Gly190= | |
| XM_017001328.2:c.570C>T | XP_016856817.1:p.Gly190= | |
| XM_024447198.1:c.201C>T | XP_024302966.1:p.Gly67= | |
| XR_002956640.1:n.1314C>T | ||
| NM_005957.5:c.447C>T MANE Select | NP_005948.3:p.Gly149= | |
| NM_001330358.2:c.570C>T | NP_001317287.1:p.Gly190= |