Linked Data
ClinVar Variation Id:
144025
ClinVar RCV Id:
RCV000133534
dbSNP Id:
rs587777646
PubMed:
PMID:24626631
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76733367C>T , CM000679.2:g.76733367C>T | GRCh38 |
| NC_000017.10:g.74729449C>T , CM000679.1:g.74729449C>T | GRCh37 |
| NC_000017.9:g.72241044C>T | NCBI36 |
| NG_032905.1:g.9045G>A , LRG_640:g.9045G>A | |
| NG_041790.1:g.11538C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341249.11:c.397C>T MANE Select | ENSP00000341543.5:p.Gln133Ter | |
| ENST00000341249.10:c.397C>T | ENSP00000341543.5:p.Gln133Ter | |
| ENST00000586200.1:c.40C>T | ENSP00000465959.1:p.Gln14Ter | |
| ENST00000586738.5:c.397C>T | ENSP00000468386.1:p.Gln133Ter | |
| ENST00000586752.5:c.196C>T | ENSP00000466203.1:p.Gln66Ter | |
| ENST00000587459.1:c.238+152C>T | ENSP00000466829.1:n.238+152C>T | |
| ENST00000588302.5:c.196C>T | ENSP00000468704.1:p.Gln66Ter | |
| ENST00000588563.5:c.397C>T | ENSP00000467503.1:p.Gln133Ter | |
| ENST00000588783.5:c.397C>T | ENSP00000466938.1:p.Gln133Ter | |
| ENST00000588822.1:c.196C>T | ENSP00000465430.1:p.Gln66Ter | |
| ENST00000589581.1:n.493C>T | ||
| ENST00000589977.5:c.397C>T | ENSP00000464965.1:p.Gln133Ter | |
| ENST00000590964.5:c.196C>T | ENSP00000465890.1:p.Gln66Ter | |
| ENST00000591571.5:c.196C>T | ENSP00000466614.1:p.Gln66Ter | |
| ENST00000592849.5:c.397C>T | ENSP00000467527.1:p.Gln133Ter | |
| ENST00000615984.4:c.397C>T | ENSP00000482599.1:p.Gln133Ter | |
| NM_001080510.4:c.397C>T | NP_001073979.3:p.Gln133Ter | |
| NM_001206983.2:c.397C>T | NP_001193912.1:p.Gln133Ter | |
| NM_001206984.2:c.397C>T | NP_001193913.1:p.Gln133Ter | |
| NM_001206985.2:c.196C>T | NP_001193914.1:p.Gln66Ter | |
| NM_001206986.2:c.196C>T | NP_001193915.1:p.Gln66Ter | |
| NM_001206987.2:c.196C>T | NP_001193916.1:p.Gln66Ter | |
| NM_001302703.1:c.397C>T | NP_001289632.1:p.Gln133Ter | |
| NM_001302704.1:c.196C>T | NP_001289633.1:p.Gln66Ter | |
| NM_001302705.1:c.385C>T | NP_001289634.1:p.Gln129Ter | |
| NR_038193.2:n.424C>T | ||
| XM_006721673.2:c.433C>T | XP_006721736.1:p.Gln145Ter | |
| XM_006721674.2:c.397C>T | XP_006721737.1:p.Gln133Ter | |
| XM_006721675.1:c.385C>T | XP_006721738.1:p.Gln129Ter | |
| XM_006721676.2:c.385C>T | XP_006721739.1:p.Gln129Ter | |
| XM_006721678.2:c.385C>T | XP_006721741.1:p.Gln129Ter | |
| XM_006721679.2:c.364C>T | XP_006721742.1:p.Gln122Ter | |
| XM_006721680.2:c.196C>T | XP_006721743.1:p.Gln66Ter | |
| XM_011524282.1:c.385C>T | XP_011522584.1:p.Gln129Ter | |
| XM_006721674.3:c.397C>T | XP_006721737.1:p.Gln133Ter | |
| XM_006721676.3:c.385C>T | XP_006721739.1:p.Gln129Ter | |
| XM_006721678.4:c.385C>T | XP_006721741.1:p.Gln129Ter | |
| XM_006721679.3:c.364C>T | XP_006721742.1:p.Gln122Ter | |
| XM_017024145.2:c.385C>T | XP_016879634.1:p.Gln129Ter | |
| XM_017024146.1:c.469C>T | XP_016879635.1:p.Gln157Ter | |
| XM_024450563.1:c.*114C>T | XP_024306331.1:n.*114C>T | |
| NM_001080510.5:c.397C>T MANE Select | NP_001073979.3:p.Gln133Ter | |
| NM_001206983.3:c.397C>T | NP_001193912.1:p.Gln133Ter | |
| NM_001206984.3:c.397C>T | NP_001193913.1:p.Gln133Ter | |
| NM_001206985.3:c.196C>T | NP_001193914.1:p.Gln66Ter | |
| NM_001206986.3:c.196C>T | NP_001193915.1:p.Gln66Ter | |
| NM_001206987.3:c.196C>T | NP_001193916.1:p.Gln66Ter | |
| NM_001302703.2:c.397C>T | NP_001289632.1:p.Gln133Ter | |
| NM_001302704.2:c.196C>T | NP_001289633.1:p.Gln66Ter | |
| NM_001302705.2:c.385C>T | NP_001289634.1:p.Gln129Ter | |
| NM_001378348.1:c.397C>T | NP_001365277.1:p.Gln133Ter | |
| NM_001378349.1:c.397C>T | NP_001365278.1:p.Gln133Ter | |
| NM_001378350.1:c.385C>T | NP_001365279.1:p.Gln129Ter | |
| NM_001378351.1:c.385C>T | NP_001365280.1:p.Gln129Ter | |
| NM_001378352.1:c.385C>T | NP_001365281.1:p.Gln129Ter | |
| NM_001378353.1:c.385C>T | NP_001365282.1:p.Gln129Ter | |
| NM_001378354.1:c.196C>T | NP_001365283.1:p.Gln66Ter |