Linked Data
ClinVar Variation Id:
501652
dbSNP Id:
rs1553187352
gnomAD v4:
1-11801210-C-A
COSMIC:
COSM121230
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11801210C>A , CM000663.2:g.11801210C>A | GRCh38 |
| NC_000001.10:g.11861267C>A , CM000663.1:g.11861267C>A | GRCh37 |
| NC_000001.9:g.11783854C>A | NCBI36 |
| NG_008766.1:g.61C>A | |
| NG_013351.1:g.9894G>T , LRG_726:g.9894G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376486.3:c.426G>T | ENSP00000365669.3:p.Leu142= | |
| ENST00000376585.6:c.549G>T | ENSP00000365770.1:p.Leu183= | |
| ENST00000376590.9:c.426G>T MANE Select | ENSP00000365775.3:p.Leu142= | |
| ENST00000376592.6:c.426G>T | ENSP00000365777.1:p.Leu142= | |
| ENST00000423400.7:c.546G>T | ENSP00000398908.3:p.Leu182= | |
| ENST00000641407.1:c.426G>T | ENSP00000493098.1:p.Leu142= | |
| ENST00000641437.1:n.558G>T | ||
| ENST00000641446.1:c.426G>T | ENSP00000493262.1:p.Leu142= | |
| ENST00000641721.1:n.483G>T | ||
| ENST00000641747.1:c.237-888G>T | ENSP00000493116.1:n.237-888G>T | |
| ENST00000641759.1:n.561G>T | ||
| ENST00000641805.1:n.709G>T | ||
| ENST00000641909.1:n.836G>T | ||
| ENST00000376583.7:c.549G>T | ENSP00000365767.3:p.Leu183= | |
| ENST00000376585.5:c.549G>T | ENSP00000365770.1:p.Leu183= | |
| ENST00000376590.7:c.426G>T | ENSP00000365775.3:p.Leu142= | |
| ENST00000376592.5:c.426G>T | ENSP00000365777.1:p.Leu142= | |
| ENST00000418034.1:c.426G>T | ENSP00000405082.1:p.Leu142= | |
| NM_005957.4:c.426G>T , LRG_726t1:c.426G>T | NP_005948.3:p.Leu142= | |
| XM_005263458.2:c.549G>T | XP_005263515.1:p.Leu183= | |
| XM_005263460.3:c.426G>T | XP_005263517.1:p.Leu142= | |
| XM_005263461.3:c.426G>T | XP_005263518.1:p.Leu142= | |
| XM_005263462.3:c.426G>T | XP_005263519.1:p.Leu142= | |
| XM_005263463.2:c.180G>T | XP_005263520.1:p.Leu60= | |
| XM_011541495.1:c.546G>T | XP_011539797.1:p.Leu182= | |
| XM_011541496.1:c.549G>T | XP_011539798.1:p.Leu183= | |
| NM_001330358.1:c.549G>T | NP_001317287.1:p.Leu183= | |
| XM_005263460.5:c.426G>T | XP_005263517.1:p.Leu142= | |
| XM_005263462.4:c.426G>T | XP_005263519.1:p.Leu142= | |
| XM_005263463.4:c.180G>T | XP_005263520.1:p.Leu60= | |
| XM_011541495.3:c.546G>T | XP_011539797.1:p.Leu182= | |
| XM_011541496.3:c.549G>T | XP_011539798.1:p.Leu183= | |
| XM_017001328.2:c.549G>T | XP_016856817.1:p.Leu183= | |
| XM_024447198.1:c.180G>T | XP_024302966.1:p.Leu60= | |
| XR_002956640.1:n.1293G>T | ||
| NM_005957.5:c.426G>T MANE Select | NP_005948.3:p.Leu142= | |
| NM_001330358.2:c.549G>T | NP_001317287.1:p.Leu183= |