Linked Data
dbSNP Id:
rs368823165
ExAC:
6:81053570 A / G
gnomAD v2:
6-81053570-A-G
gnomAD v3:
6-80343853-A-G
gnomAD v4:
6-80343853-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80343853A>G , CM000668.2:g.80343853A>G | GRCh38 |
| NC_000006.11:g.81053570A>G , CM000668.1:g.81053570A>G | GRCh37 |
| NC_000006.10:g.81110289A>G | NCBI36 |
| NG_009775.1:g.242227A>G | |
| NG_009775.2:g.242227A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320393.9:c.*49A>G MANE Select | ENSP00000318351.5:n.*49A>G | |
| ENST00000320393.8:c.*49A>G | ENSP00000318351.5:n.*49A>G | |
| ENST00000356489.9:c.*8+41A>G | ENSP00000348880.5:n.*8+41A>G | |
| ENST00000491328.1:n.242+41A>G | ||
| NM_000056.3:c.*8+41A>G | NP_000047.1:n.*8+41A>G | |
| NM_183050.2:c.*49A>G | NP_898871.1:n.*49A>G | |
| NM_000056.4:c.*8+41A>G | NP_000047.1:n.*8+41A>G | |
| NM_001318975.1:c.*49A>G | NP_001305904.1:n.*49A>G | |
| NM_183050.3:c.*49A>G | NP_898871.1:n.*49A>G | |
| NR_134945.1:n.1406A>G | ||
| XM_011536024.3:c.*234A>G | XP_011534326.1:n.*234A>G | |
| XR_001743546.2:n.1068+70632A>G | ||
| XR_001743547.2:n.1068+70632A>G | ||
| XR_001743548.2:n.1068+70632A>G | ||
| XR_001743549.2:n.1068+70632A>G | ||
| XR_002956292.1:n.1068+70632A>G | ||
| NM_183050.4:c.*49A>G MANE Select | NP_898871.1:n.*49A>G | |
| NR_134945.2:n.1345A>G | ||
| NM_000056.5:c.*8+41A>G | NP_000047.1:n.*8+41A>G |