Linked Data
dbSNP Id:
rs542885623
gnomAD v2:
2-32361512-T-A
gnomAD v3:
2-32136443-T-A
gnomAD v4:
2-32136443-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32136443T>A , CM000664.2:g.32136443T>A | GRCh38 |
| NC_000002.11:g.32361512T>A , CM000664.1:g.32361512T>A | GRCh37 |
| NC_000002.10:g.32215016T>A | NCBI36 |
| NG_008730.1:g.77833T>A , LRG_714:g.77833T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*906-120T>A | ENSP00000515816.1:n.*906-120T>A | |
| ENST00000315285.9:c.1246-120T>A MANE Select | ENSP00000320885.3:n.1246-120T>A | |
| ENST00000621856.2:c.1243-120T>A | ENSP00000482496.2:n.1243-120T>A | |
| ENST00000642281.1:c.983-120T>A | ||
| ENST00000642455.1:c.1147-120T>A | ENSP00000493827.1:n.1147-120T>A | |
| ENST00000642751.1:c.1020-120T>A | ||
| ENST00000642999.1:c.988-120T>A | ENSP00000496589.1:n.988-120T>A | |
| ENST00000643327.1:c.405-120T>A | ||
| ENST00000643334.1:c.826-120T>A | ||
| ENST00000644408.1:c.1122-120T>A | ||
| ENST00000644954.1:c.892-120T>A | ENSP00000494312.1:n.892-120T>A | |
| ENST00000645159.1:n.1983-120T>A | ||
| ENST00000645671.1:c.696-120T>A | ||
| ENST00000645730.1:c.593-666T>A | ||
| ENST00000646082.1:c.892-120T>A | ||
| ENST00000646571.1:c.1150-120T>A | ENSP00000495015.1:n.1150-120T>A | |
| ENST00000647007.1:n.938-120T>A | ||
| ENST00000647133.1:c.746-120T>A | ||
| ENST00000315285.7:c.1246-120T>A | ENSP00000320885.3:n.1246-120T>A | |
| ENST00000345662.5:c.1150-120T>A | ENSP00000340817.1:n.1150-120T>A | |
| ENST00000615843.4:c.1246-120T>A | ENSP00000480893.1:n.1246-120T>A | |
| ENST00000621856.1:c.988-120T>A | ENSP00000482496.1:n.988-120T>A | |
| NM_014946.3:c.1246-120T>A , LRG_714t1:c.1246-120T>A | NP_055761.2:n.1246-120T>A | |
| NM_199436.1:c.1150-120T>A | NP_955468.1:n.1150-120T>A | |
| XM_005264516.3:c.1243-120T>A | XP_005264573.1:n.1243-120T>A | |
| XM_011533067.1:c.1246-120T>A | XP_011531369.1:n.1246-120T>A | |
| NM_001363823.1:c.1243-120T>A | NP_001350752.1:n.1243-120T>A | |
| NM_001363875.1:c.1147-120T>A | NP_001350804.1:n.1147-120T>A | |
| XM_005264516.5:c.1243-120T>A | XP_005264573.1:n.1243-120T>A | |
| XM_011533067.2:c.1246-120T>A | XP_011531369.1:n.1246-120T>A | |
| XM_017004778.2:c.1150-120T>A | XP_016860267.1:n.1150-120T>A | |
| NM_001363823.2:c.1243-120T>A | NP_001350752.1:n.1243-120T>A | |
| NM_001363875.2:c.1147-120T>A | NP_001350804.1:n.1147-120T>A | |
| NM_001377959.1:c.1150-120T>A | NP_001364888.1:n.1150-120T>A | |
| NM_014946.4:c.1246-120T>A MANE Select | NP_055761.2:n.1246-120T>A | |
| NM_199436.2:c.1150-120T>A | NP_955468.1:n.1150-120T>A |