Linked Data
ClinVar Variation Id:
335858
dbSNP Id:
rs575900032
gnomAD v2:
2-32380941-A-G
gnomAD v3:
2-32155872-A-G
gnomAD v4:
2-32155872-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32155872A>G , CM000664.2:g.32155872A>G | GRCh38 |
| NC_000002.11:g.32380941A>G , CM000664.1:g.32380941A>G | GRCh37 |
| NC_000002.10:g.32234445A>G | NCBI36 |
| NG_008730.1:g.97262A>G , LRG_714:g.97262A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315285.9:c.*1376A>G MANE Select | ENSP00000320885.3:n.*1376A>G | |
| ENST00000642751.1:c.2930A>G | ||
| ENST00000642999.1:c.*1376A>G | ENSP00000496589.1:n.*1376A>G | |
| ENST00000644954.1:c.*1376A>G | ENSP00000494312.1:n.*1376A>G | |
| ENST00000646571.1:c.*1376A>G | ENSP00000495015.1:n.*1376A>G | |
| ENST00000315285.7:c.*1376A>G | ENSP00000320885.3:n.*1376A>G | |
| ENST00000345662.5:c.*1376A>G | ENSP00000340817.1:n.*1376A>G | |
| ENST00000615843.4:c.*1376A>G | ENSP00000480893.1:n.*1376A>G | |
| NM_014946.3:c.*1376A>G , LRG_714t1:c.*1376A>G | NP_055761.2:n.*1376A>G | |
| NM_199436.1:c.*1376A>G | NP_955468.1:n.*1376A>G | |
| XM_005264516.3:c.*1376A>G | XP_005264573.1:n.*1376A>G | |
| NM_001363823.1:c.*1376A>G | NP_001350752.1:n.*1376A>G | |
| NM_001363875.1:c.*1376A>G | NP_001350804.1:n.*1376A>G | |
| XM_005264516.5:c.3224A>G | XP_005264573.1:n.3224A>G | |
| XM_011533067.2:c.*1500A>G | XP_011531369.1:n.*1500A>G | |
| XM_017004778.2:c.*1500A>G | XP_016860267.1:n.*1500A>G | |
| NM_001363823.2:c.*1376A>G | NP_001350752.1:n.*1376A>G | |
| NM_001363875.2:c.*1376A>G | NP_001350804.1:n.*1376A>G | |
| NM_001377959.1:c.*1500A>G | NP_001364888.1:n.*1500A>G | |
| NM_014946.4:c.*1376A>G MANE Select | NP_055761.2:n.*1376A>G | |
| NM_199436.2:c.*1376A>G | NP_955468.1:n.*1376A>G |