Linked Data
ClinVar Variation Id:
205434
ClinVar RCV Id:
RCV000187395
dbSNP Id:
rs796052427
gnomAD v4:
6-145627534-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.145627534T>A , CM000668.2:g.145627534T>A | GRCh38 |
| NC_000006.11:g.145948670T>A , CM000668.1:g.145948670T>A | GRCh37 |
| NC_000006.10:g.145990363T>A | NCBI36 |
| NG_012832.1:g.113322A>T | |
| NG_012832.2:g.113322A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367519.9:c.878A>T MANE Select | ENSP00000356489.3:p.Gln293Leu | |
| ENST00000435470.2:c.878A>T | ENSP00000405913.2:p.Gln293Leu | |
| ENST00000450221.6:c.340+7711A>T | ENSP00000414900.2:n.340+7711A>T | |
| ENST00000611340.5:c.464A>T | ENSP00000480268.1:p.Gln155Leu | |
| ENST00000638262.1:c.636A>T | ENSP00000492876.1:p.Ala212= | |
| ENST00000638554.1:c.817A>T | ENSP00000492823.1:n.817A>T | |
| ENST00000638597.1:n.335A>T | ||
| ENST00000638717.1:c.501+7711A>T | ||
| ENST00000638778.1:c.464A>T | ENSP00000491353.1:p.Gln155Leu | |
| ENST00000638783.1:c.464A>T | ENSP00000491338.1:p.Gln155Leu | |
| ENST00000639049.1:c.1105A>T | ||
| ENST00000639106.1:n.4790A>T | ||
| ENST00000639423.1:c.464A>T | ENSP00000492701.1:p.Gln155Leu | |
| ENST00000639465.1:c.464A>T | ENSP00000491180.1:p.Gln155Leu | |
| ENST00000639648.1:n.459A>T | ||
| ENST00000639799.1:n.1419A>T | ||
| ENST00000639859.1:n.6202A>T | ||
| ENST00000640225.1:c.*412A>T | ENSP00000492179.1:n.*412A>T | |
| ENST00000640351.1:c.614A>T | ||
| ENST00000640980.1:c.222A>T | ENSP00000491191.1:p.Ala74= | |
| ENST00000367519.7:c.878A>T | ENSP00000356489.3:p.Gln293Leu | |
| ENST00000435470.1:c.637A>T | ||
| ENST00000450221.5:c.417+7711A>T | ||
| ENST00000611340.4:c.464A>T | ENSP00000480268.1:p.Gln155Leu | |
| ENST00000618445.4:c.878A>T | ENSP00000480339.1:p.Gln293Leu | |
| NM_001018041.1:c.878A>T | NP_001018051.1:p.Gln293Leu | |
| NM_005670.3:c.878A>T | NP_005661.1:p.Gln293Leu | |
| XM_006715564.2:c.636A>T | XP_006715627.1:p.Ala212= | |
| XM_011536113.1:c.718+7711A>T | XP_011534415.1:n.718+7711A>T | |
| XM_011536114.1:c.718+7711A>T | XP_011534416.1:n.718+7711A>T | |
| XM_011536116.1:c.464A>T | XP_011534418.1:p.Gln155Leu | |
| NM_001360057.1:c.636A>T | NP_001346986.1:p.Ala212= | |
| NM_001360064.1:c.464A>T | NP_001346993.1:p.Gln155Leu | |
| NM_001360071.1:c.464A>T | NP_001347000.1:p.Gln155Leu | |
| NR_153397.1:n.1061A>T | ||
| NR_153398.1:n.449A>T | ||
| XM_011536113.2:c.718+7711A>T | XP_011534415.1:n.718+7711A>T | |
| XM_017011301.1:c.416A>T | XP_016866790.1:p.Gln139Leu | |
| XM_017011302.1:c.416A>T | XP_016866791.1:p.Gln139Leu | |
| XM_024446550.1:c.718+7711A>T | XP_024302318.1:n.718+7711A>T | |
| XM_024446551.1:c.464A>T | XP_024302319.1:p.Gln155Leu | |
| NM_005670.4:c.878A>T MANE Select | NP_005661.1:p.Gln293Leu | |
| NM_001018041.2:c.878A>T | NP_001018051.1:p.Gln293Leu | |
| NM_001360057.2:c.636A>T | NP_001346986.1:p.Ala212= | |
| NM_001360064.2:c.464A>T | NP_001346993.1:p.Gln155Leu | |
| NM_001360071.2:c.464A>T | NP_001347000.1:p.Gln155Leu | |
| NM_001368129.2:c.416A>T | NP_001355058.1:p.Gln139Leu | |
| NM_001368131.1:c.464A>T | NP_001355060.1:p.Gln155Leu | |
| NM_001368132.1:c.416A>T | NP_001355061.1:p.Gln139Leu | |
| NR_153398.2:n.451A>T |