Linked Data
ClinVar Variation Id:
335888
dbSNP Id:
rs886055983
gnomAD v2:
2-32382463-C-T
gnomAD v3:
2-32157394-C-T
gnomAD v4:
2-32157394-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32157394C>T , CM000664.2:g.32157394C>T | GRCh38 |
| NC_000002.11:g.32382463C>T , CM000664.1:g.32382463C>T | GRCh37 |
| NC_000002.10:g.32235967C>T | NCBI36 |
| NG_008730.1:g.98784C>T , LRG_714:g.98784C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315285.9:c.*2898C>T MANE Select | ENSP00000320885.3:n.*2898C>T | |
| ENST00000642751.1:c.4452C>T | ||
| ENST00000642999.1:c.*2898C>T | ENSP00000496589.1:n.*2898C>T | |
| ENST00000644954.1:c.*2898C>T | ENSP00000494312.1:n.*2898C>T | |
| ENST00000646571.1:c.*2898C>T | ENSP00000495015.1:n.*2898C>T | |
| ENST00000315285.7:c.*2898C>T | ENSP00000320885.3:n.*2898C>T | |
| ENST00000345662.5:c.*2898C>T | ENSP00000340817.1:n.*2898C>T | |
| ENST00000615843.4:c.*2898C>T | ENSP00000480893.1:n.*2898C>T | |
| NM_014946.3:c.*2898C>T , LRG_714t1:c.*2898C>T | NP_055761.2:n.*2898C>T | |
| NM_199436.1:c.*2898C>T | NP_955468.1:n.*2898C>T | |
| XM_005264516.3:c.*2898C>T | XP_005264573.1:n.*2898C>T | |
| NM_001363823.1:c.*2898C>T | NP_001350752.1:n.*2898C>T | |
| NM_001363875.1:c.*2898C>T | NP_001350804.1:n.*2898C>T | |
| XM_011533067.2:c.*3022C>T | XP_011531369.1:n.*3022C>T | |
| NM_001363823.2:c.*2898C>T | NP_001350752.1:n.*2898C>T | |
| NM_001363875.2:c.*2898C>T | NP_001350804.1:n.*2898C>T | |
| NM_001377959.1:c.*3022C>T | NP_001364888.1:n.*3022C>T | |
| NM_014946.4:c.*2898C>T MANE Select | NP_055761.2:n.*2898C>T | |
| NM_199436.2:c.*2898C>T | NP_955468.1:n.*2898C>T |