Linked Data
ClinVar Variation Id:
135052
ClinVar RCV Id:
RCV000121825
dbSNP Id:
rs147084726
ExAC:
2:190718999 C / T
gnomAD v2:
2-190718999-C-T
gnomAD v3:
2-189854273-C-T
gnomAD v4:
2-189854273-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189854273C>T , CM000664.2:g.189854273C>T | GRCh38 |
| NC_000002.11:g.190718999C>T , CM000664.1:g.190718999C>T | GRCh37 |
| NC_000002.10:g.190427244C>T | NCBI36 |
| NG_008648.1:g.75189C>T , LRG_221:g.75189C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441310.7:c.1001C>T MANE Select | ENSP00000406490.3:p.Thr334Met | |
| ENST00000639501.1:c.884C>T | ENSP00000491236.1:p.Thr295Met | |
| ENST00000342075.8:c.*571C>T | ENSP00000343888.4:n.*571C>T | |
| ENST00000409593.5:c.356C>T | ENSP00000387169.1:p.Thr119Met | |
| ENST00000409823.7:c.884C>T | ENSP00000387125.3:p.Thr295Met | |
| ENST00000418224.7:c.884C>T | ENSP00000404492.4:p.Thr295Met | |
| ENST00000421722.5:n.970C>T | ||
| ENST00000424059.1:n.884C>T | ||
| ENST00000424307.5:c.818C>T | ENSP00000389938.1:p.Thr273Met | |
| ENST00000432292.7:c.473C>T | ENSP00000398378.3:p.Thr158Met | |
| ENST00000441310.6:c.1001C>T | ENSP00000406490.2:p.Thr334Met | |
| ENST00000447232.6:c.1001C>T | ENSP00000401064.2:p.Thr334Met | |
| ENST00000450931.5:c.884C>T | ENSP00000406225.1:p.Thr295Met | |
| ENST00000618056.4:c.583-22999C>T | ENSP00000480632.1:n.583-22999C>T | |
| ENST00000624204.3:c.473C>T | ENSP00000485312.1:p.Thr158Met | |
| NM_000534.4:c.1001C>T , LRG_221t1:c.1001C>T | NP_000525.1:p.Thr334Met | |
| NM_001128143.1:c.884C>T | NP_001121615.1:p.Thr295Met | |
| NM_001128144.1:c.1001C>T | NP_001121616.1:p.Thr334Met | |
| NM_001289408.1:c.473C>T | NP_001276337.1:p.Thr158Met | |
| NM_001289409.1:c.473C>T | NP_001276338.1:p.Thr158Met | |
| NR_110332.1:n.1510C>T | ||
| XM_005246647.2:c.1001C>T | XP_005246704.1:p.Thr334Met | |
| XM_005246649.2:c.878C>T | XP_005246706.1:p.Thr293Met | |
| XM_006712596.1:c.446C>T | XP_006712659.1:p.Thr149Met | |
| XM_011511353.1:c.1001C>T | XP_011509655.1:p.Thr334Met | |
| XM_011511354.1:c.1001C>T | XP_011509656.1:p.Thr334Met | |
| XM_011511355.1:c.818C>T | XP_011509657.1:p.Thr273Met | |
| XM_011511356.1:c.473C>T | XP_011509658.1:p.Thr158Met | |
| XM_011511357.1:c.884C>T | XP_011509659.1:p.Thr295Met | |
| XR_922951.1:n.1165C>T | ||
| XR_923696.1:n.310-1416G>A | ||
| XR_923697.1:n.505-1416G>A | ||
| XR_923698.1:n.263-1416G>A | ||
| NM_001321044.1:c.884C>T | NP_001307973.1:p.Thr295Met | |
| NM_001321045.1:c.1001C>T | NP_001307974.1:p.Thr334Met | |
| NM_001321046.1:c.818C>T | NP_001307975.1:p.Thr273Met | |
| NM_001321047.1:c.1001C>T | NP_001307976.1:p.Thr334Met | |
| NM_001321048.1:c.1001C>T | NP_001307977.1:p.Thr334Met | |
| XM_011511356.3:c.473C>T | XP_011509658.1:p.Thr158Met | |
| XM_017004344.1:c.884C>T | XP_016859833.1:p.Thr295Met | |
| XM_017004345.1:c.818C>T | XP_016859834.1:p.Thr273Met | |
| XM_017004346.2:c.818C>T | XP_016859835.1:p.Thr273Met | |
| XM_017004347.1:c.701C>T | XP_016859836.1:p.Thr234Met | |
| XM_017004348.1:c.1001C>T | XP_016859837.1:p.Thr334Met | |
| XM_017004349.2:c.356C>T | XP_016859838.1:p.Thr119Met | |
| XM_017004350.1:c.818C>T | XP_016859839.1:p.Thr273Met | |
| XM_024452964.1:c.1001C>T | XP_024308732.1:p.Thr334Met | |
| XM_024452965.1:c.1001C>T | XP_024308733.1:p.Thr334Met | |
| XM_024452966.1:c.884C>T | XP_024308734.1:p.Thr295Met | |
| XM_024452967.1:c.884C>T | XP_024308735.1:p.Thr295Met | |
| XM_024452968.1:c.473C>T | XP_024308736.1:p.Thr158Met | |
| XM_024452969.1:c.473C>T | XP_024308737.1:p.Thr158Met | |
| XR_001738779.1:n.1256C>T | ||
| XR_002959307.1:n.1261C>T | ||
| XR_922951.2:n.1159C>T | ||
| NM_000534.5:c.1001C>T MANE Select | NP_000525.1:p.Thr334Met | |
| NM_001128143.2:c.884C>T | NP_001121615.1:p.Thr295Met | |
| NM_001128144.2:c.1001C>T | NP_001121616.1:p.Thr334Met | |
| NM_001321044.2:c.884C>T | NP_001307973.1:p.Thr295Met | |
| NM_001321045.2:c.1001C>T | NP_001307974.1:p.Thr334Met | |
| NM_001321046.2:c.818C>T | NP_001307975.1:p.Thr273Met | |
| NM_001321047.2:c.1001C>T | NP_001307976.1:p.Thr334Met | |
| NM_001321048.2:c.1001C>T | NP_001307977.1:p.Thr334Met | |
| NR_110332.2:n.1145C>T | ||
| NM_001289408.2:c.473C>T | NP_001276337.1:p.Thr158Met | |
| NM_001289409.2:c.473C>T | NP_001276338.1:p.Thr158Met |