Linked Data
ClinVar Variation Id:
390460
ClinVar RCV Id:
RCV000419000
dbSNP Id:
rs917788107
gnomAD v2:
6-146007338-G-A
gnomAD v3:
6-145686202-G-A
gnomAD v4:
6-145686202-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.145686202G>A , CM000668.2:g.145686202G>A | GRCh38 |
| NC_000006.11:g.146007338G>A , CM000668.1:g.146007338G>A | GRCh37 |
| NC_000006.10:g.146049031G>A | NCBI36 |
| NG_012832.1:g.54654C>T | |
| NG_012832.2:g.54654C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367519.9:c.396C>T MANE Select | ENSP00000356489.3:p.Ala132= | |
| ENST00000435470.2:c.396C>T | ENSP00000405913.2:p.Ala132= | |
| ENST00000450221.6:c.18C>T | ENSP00000414900.2:p.Ala6= | |
| ENST00000496228.2:n.203C>T | ||
| ENST00000611340.5:c.-19C>T | ENSP00000480268.1:n.-19C>T | |
| ENST00000638262.1:c.396C>T | ENSP00000492876.1:p.Ala132= | |
| ENST00000638554.1:c.174C>T | ENSP00000492823.1:p.Ala58= | |
| ENST00000638717.1:c.179C>T | ||
| ENST00000638778.1:c.-19C>T | ENSP00000491353.1:n.-19C>T | |
| ENST00000638783.1:c.-19C>T | ENSP00000491338.1:n.-19C>T | |
| ENST00000639049.1:c.623C>T | ||
| ENST00000639423.1:c.-19C>T | ENSP00000492701.1:n.-19C>T | |
| ENST00000639465.1:c.-19C>T | ENSP00000491180.1:n.-19C>T | |
| ENST00000639799.1:n.937C>T | ||
| ENST00000639849.1:c.-19C>T | ENSP00000491224.1:n.-19C>T | |
| ENST00000640225.1:c.-19C>T | ENSP00000492179.1:n.-19C>T | |
| ENST00000640297.1:n.317+48996C>T | ||
| ENST00000640351.1:c.132C>T | ||
| ENST00000640426.2:n.108C>T | ||
| ENST00000640898.1:n.177C>T | ||
| ENST00000640980.1:c.-19C>T | ENSP00000491191.1:n.-19C>T | |
| ENST00000367519.7:c.396C>T | ENSP00000356489.3:p.Ala132= | |
| ENST00000435470.1:c.155C>T | ||
| ENST00000450221.5:c.95C>T | ||
| ENST00000461700.1:n.136+38C>T | ||
| ENST00000496228.1:n.129C>T | ||
| ENST00000611340.4:c.-19C>T | ENSP00000480268.1:n.-19C>T | |
| ENST00000618445.4:c.396C>T | ENSP00000480339.1:p.Ala132= | |
| NM_001018041.1:c.396C>T | NP_001018051.1:p.Ala132= | |
| NM_005670.3:c.396C>T | NP_005661.1:p.Ala132= | |
| XM_006715564.2:c.396C>T | XP_006715627.1:p.Ala132= | |
| XM_011536113.1:c.396C>T | XP_011534415.1:p.Ala132= | |
| XM_011536114.1:c.396C>T | XP_011534416.1:p.Ala132= | |
| XM_011536115.1:c.396C>T | XP_011534417.1:p.Ala132= | |
| XM_011536116.1:c.-19C>T | XP_011534418.1:n.-19C>T | |
| NM_001360057.1:c.396C>T | NP_001346986.1:p.Ala132= | |
| NM_001360064.1:c.-19C>T | NP_001346993.1:n.-19C>T | |
| NM_001360071.1:c.-19C>T | NP_001347000.1:n.-19C>T | |
| NR_153397.1:n.418C>T | ||
| NR_153398.1:n.209C>T | ||
| XM_011536113.2:c.396C>T | XP_011534415.1:p.Ala132= | |
| XM_024446550.1:c.396C>T | XP_024302318.1:p.Ala132= | |
| XM_024446551.1:c.-19C>T | XP_024302319.1:n.-19C>T | |
| NM_005670.4:c.396C>T MANE Select | NP_005661.1:p.Ala132= | |
| NM_001018041.2:c.396C>T | NP_001018051.1:p.Ala132= | |
| NM_001360057.2:c.396C>T | NP_001346986.1:p.Ala132= | |
| NM_001360064.2:c.-19C>T | NP_001346993.1:n.-19C>T | |
| NM_001360071.2:c.-19C>T | NP_001347000.1:n.-19C>T | |
| NM_001368129.2:c.-228C>T | NP_001355058.1:n.-228C>T | |
| NM_001368130.1:c.396C>T | NP_001355059.1:p.Ala132= | |
| NM_001368131.1:c.-19C>T | NP_001355060.1:n.-19C>T | |
| NM_001368132.1:c.-228C>T | NP_001355061.1:n.-228C>T | |
| NR_153398.2:n.211C>T |