Linked Data
ClinVar Variation Id:
1644944
ClinVar RCV Id:
RCV002143570
dbSNP Id:
rs138662843
gnomAD v2:
11-76572065-C-G
gnomAD v3:
11-76861021-C-G
gnomAD v4:
11-76861021-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.76861021C>G , CM000673.2:g.76861021C>G | GRCh38 |
| NC_000011.9:g.76572065C>G , CM000673.1:g.76572065C>G | GRCh37 |
| NC_000011.8:g.76249713C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530182.6:n.87C>G | ||
| ENST00000530334.6:c.45C>G | ENSP00000435048.2:p.Thr15= | |
| ENST00000532485.6:c.45C>G MANE Select | ENSP00000434480.1:p.Thr15= | |
| ENST00000679611.1:n.85C>G | ||
| ENST00000679754.1:c.45C>G | ENSP00000505416.1:p.Thr15= | |
| ENST00000679866.1:c.45C>G | ENSP00000505175.1:p.Thr15= | |
| ENST00000679924.1:c.-119C>G | ENSP00000506405.1:n.-119C>G | |
| ENST00000680583.1:c.-171C>G | ENSP00000505842.1:n.-171C>G | |
| ENST00000680842.1:c.45C>G | ENSP00000506534.1:p.Thr15= | |
| ENST00000681004.1:c.45C>G | ENSP00000505132.1:p.Thr15= | |
| ENST00000681251.1:c.45C>G | ENSP00000505549.1:p.Thr15= | |
| ENST00000681257.1:c.45C>G | ENSP00000506160.1:p.Thr15= | |
| ENST00000681354.1:c.45C>G | ENSP00000505846.1:p.Thr15= | |
| ENST00000681375.1:c.45C>G | ENSP00000506417.1:p.Thr15= | |
| ENST00000681411.1:c.45C>G | ENSP00000504918.1:p.Thr15= | |
| ENST00000681732.1:c.45C>G | ENSP00000504927.1:p.Thr15= | |
| ENST00000681955.1:c.45C>G | ENSP00000505191.1:p.Thr15= | |
| ENST00000278544.9:c.45C>G | ENSP00000278544.5:p.Thr15= | |
| ENST00000525194.5:c.45C>G | ENSP00000432109.1:p.Thr15= | |
| ENST00000525861.5:c.45C>G | ENSP00000432379.1:p.Thr15= | |
| ENST00000526597.5:c.-295C>G | ENSP00000431149.1:n.-295C>G | |
| ENST00000530182.5:n.101C>G | ||
| ENST00000530334.5:c.45C>G | ENSP00000435048.1:p.Thr15= | |
| ENST00000531352.5:c.45C>G | ENSP00000431504.1:p.Thr15= | |
| ENST00000531461.5:c.45C>G | ENSP00000433368.1:p.Thr15= | |
| ENST00000532485.5:c.45C>G | ENSP00000434480.1:p.Thr15= | |
| ENST00000533873.1:c.45C>G | ENSP00000436252.1:p.Thr15= | |
| ENST00000534206.5:c.-65C>G | ENSP00000435733.1:n.-65C>G | |
| NM_001300953.1:c.45C>G | NP_001287882.1:p.Thr15= | |
| NM_001300954.1:c.-312C>G | NP_001287883.1:n.-312C>G | |
| NM_001300955.1:c.-188C>G | NP_001287884.1:n.-188C>G | |
| NM_018367.6:c.45C>G | NP_060837.3:p.Thr15= | |
| XM_005274087.3:c.-230C>G | XP_005274144.1:n.-230C>G | |
| XM_005274092.2:c.45C>G | XP_005274149.1:p.Thr15= | |
| XM_011545151.1:c.45C>G | XP_011543453.1:p.Thr15= | |
| XM_011545153.1:c.45C>G | XP_011543455.1:p.Thr15= | |
| XR_949982.1:n.133C>G | ||
| XR_949983.1:n.133C>G | ||
| XR_949984.1:n.133C>G | ||
| XR_949985.1:n.133C>G | ||
| XM_011545151.2:c.45C>G | XP_011543453.1:p.Thr15= | |
| XM_011545153.2:c.45C>G | XP_011543455.1:p.Thr15= | |
| XM_017017987.1:c.45C>G | XP_016873476.1:p.Thr15= | |
| XM_017017988.1:c.45C>G | XP_016873477.1:p.Thr15= | |
| XR_001747918.1:n.115C>G | ||
| XR_001747919.1:n.115C>G | ||
| NM_018367.7:c.45C>G MANE Select | NP_060837.3:p.Thr15= | |
| NM_001300953.2:c.45C>G | NP_001287882.1:p.Thr15= | |
| NM_001300954.2:c.-312C>G | NP_001287883.1:n.-312C>G | |
| NM_001300955.2:c.-188C>G | NP_001287884.1:n.-188C>G |