Linked Data
ClinVar Variation Id:
1348008
dbSNP Id:
rs1295193195
gnomAD v2:
11-64572063-C-T
gnomAD v4:
11-64804591-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64804591C>T , CM000673.2:g.64804591C>T | GRCh38 |
| NC_000011.9:g.64572063C>T , CM000673.1:g.64572063C>T | GRCh37 |
| NC_000011.8:g.64328639C>T | NCBI36 |
| NG_008929.1:g.11704G>A , LRG_509:g.11704G>A | |
| NG_033040.1:g.3651G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377313.7:c.1591G>A | ENSP00000366530.1:p.Ala531Thr | |
| ENST00000394374.8:c.*884G>A | ENSP00000377899.4:n.*884G>A | |
| ENST00000394376.7:c.1567G>A | ENSP00000377901.3:p.Ala523Thr | |
| ENST00000413626.2:c.1576G>A | ENSP00000411218.2:p.Ala526Thr | |
| ENST00000424912.2:c.1576G>A | ENSP00000388016.2:p.Ala526Thr | |
| ENST00000429702.6:c.1576G>A | ENSP00000402752.2:p.Ala526Thr | |
| ENST00000672079.2:c.*672G>A | ENSP00000500905.2:n.*672G>A | |
| ENST00000710881.1:c.1591G>A | ENSP00000518530.1:p.Ala531Thr | |
| ENST00000394376.6:c.918G>A | ||
| ENST00000478548.3:n.2069G>A | ||
| ENST00000671939.2:n.1538G>A | ||
| ENST00000671965.2:n.1958G>A | ||
| ENST00000312049.11:c.1576G>A | ENSP00000308975.6:p.Ala526Thr | |
| ENST00000315422.9:c.1576G>A | ENSP00000323747.4:p.Ala526Thr | |
| ENST00000377313.6:c.1591G>A | ENSP00000366530.1:p.Ala531Thr | |
| ENST00000440873.6:c.1576G>A | ENSP00000413944.2:p.Ala526Thr | |
| ENST00000450708.7:c.1576G>A MANE Select | ENSP00000394933.3:p.Ala526Thr | |
| ENST00000478548.2:n.2077G>A | ||
| ENST00000671939.1:n.1853G>A | ||
| ENST00000672304.1:c.1702G>A | ENSP00000500585.1:p.Ala568Thr | |
| ENST00000312049.10:c.1576G>A | ENSP00000308975.6:p.Ala526Thr | |
| ENST00000315422.8:c.1576G>A | ENSP00000323747.4:p.Ala526Thr | |
| ENST00000337652.5:c.1591G>A | ENSP00000337088.1:p.Ala531Thr | |
| ENST00000377313.5:c.1591G>A | ENSP00000366530.1:p.Ala531Thr | |
| ENST00000377316.6:c.1411G>A | ENSP00000366533.1:p.Ala471Thr | |
| ENST00000377321.5:c.1471G>A | ENSP00000366538.1:p.Ala491Thr | |
| ENST00000377326.7:c.1576G>A | ENSP00000366543.3:p.Ala526Thr | |
| ENST00000394374.6:c.1591G>A | ENSP00000377899.2:p.Ala531Thr | |
| ENST00000394376.5:c.1591G>A | ENSP00000377901.1:p.Ala531Thr | |
| ENST00000478548.1:n.1125G>A | ||
| NM_000244.3:c.1591G>A , LRG_509t1:c.1591G>A | NP_000235.2:p.Ala531Thr | |
| NM_130799.2:c.1576G>A , LRG_509t2:c.1576G>A | NP_570711.1:p.Ala526Thr | |
| NM_130800.2:c.1591G>A | NP_570712.1:p.Ala531Thr | |
| NM_130801.2:c.1591G>A | NP_570713.1:p.Ala531Thr | |
| NM_130802.2:c.1591G>A | NP_570714.1:p.Ala531Thr | |
| NM_130803.2:c.1591G>A | NP_570715.1:p.Ala531Thr | |
| NM_130804.2:c.1591G>A | NP_570716.1:p.Ala531Thr | |
| XM_005274001.3:c.1576G>A | XP_005274058.1:p.Ala526Thr | |
| XM_011545040.1:c.1702G>A | XP_011543342.1:p.Ala568Thr | |
| XM_011545041.1:c.1702G>A | XP_011543343.1:p.Ala568Thr | |
| XM_011545042.1:c.1702G>A | XP_011543344.1:p.Ala568Thr | |
| XM_005274001.4:c.1576G>A | XP_005274058.1:p.Ala526Thr | |
| XM_011545041.2:c.1702G>A | XP_011543343.1:p.Ala568Thr | |
| XM_011545042.3:c.1702G>A | XP_011543344.1:p.Ala568Thr | |
| XM_017017765.1:c.1717G>A | XP_016873254.1:p.Ala573Thr | |
| XM_017017766.1:c.1717G>A | XP_016873255.1:p.Ala573Thr | |
| XM_017017767.2:c.1717G>A | XP_016873256.1:p.Ala573Thr | |
| XM_017017768.1:c.1717G>A | XP_016873257.1:p.Ala573Thr | |
| XM_017017769.1:c.1576G>A | XP_016873258.1:p.Ala526Thr | |
| XM_017017770.2:c.1576G>A | XP_016873259.1:p.Ala526Thr | |
| NM_001370251.1:c.1702G>A | NP_001357180.1:p.Ala568Thr | |
| NM_001370259.2:c.1576G>A MANE Select | NP_001357188.2:p.Ala526Thr | |
| NM_001370260.1:c.1576G>A | NP_001357189.1:p.Ala526Thr | |
| NM_001370261.1:c.1576G>A | NP_001357190.1:p.Ala526Thr | |
| NM_001370262.1:c.1471G>A | NP_001357191.1:p.Ala491Thr | |
| NM_001370263.1:c.1471G>A | NP_001357192.1:p.Ala491Thr | |
| NM_000244.4:c.1591G>A | NP_000235.3:p.Ala531Thr | |
| NM_001370251.2:c.1702G>A | NP_001357180.2:p.Ala568Thr | |
| NM_001370260.2:c.1576G>A | NP_001357189.2:p.Ala526Thr | |
| NM_001370261.2:c.1576G>A | NP_001357190.2:p.Ala526Thr | |
| NM_001370262.2:c.1471G>A | NP_001357191.2:p.Ala491Thr | |
| NM_001370263.2:c.1471G>A | NP_001357192.2:p.Ala491Thr | |
| NM_130799.3:c.1576G>A | NP_570711.2:p.Ala526Thr | |
| NM_130800.3:c.1591G>A | NP_570712.2:p.Ala531Thr | |
| NM_130801.3:c.1591G>A | NP_570713.2:p.Ala531Thr | |
| NM_130802.3:c.1591G>A | NP_570714.2:p.Ala531Thr | |
| NM_130803.3:c.1591G>A | NP_570715.2:p.Ala531Thr | |
| NM_130804.3:c.1591G>A | NP_570716.2:p.Ala531Thr |