Linked Data
dbSNP Id:
rs1483914309
gnomAD v2:
16-227416-A-G
gnomAD v3:
16-177417-A-G
gnomAD v4:
16-177417-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177417A>G , CM000678.2:g.177417A>G | GRCh38 |
| NC_000016.9:g.227416A>G , CM000678.1:g.227416A>G | GRCh37 |
| NC_000016.8:g.167416A>G | NCBI36 |
| NG_000006.1:g.38280A>G | |
| NG_059186.1:g.5767A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.*6A>G MANE Select | ENSP00000322421.5:n.*6A>G | |
| ENST00000397797.1:c.*6A>G | ENSP00000380899.1:n.*6A>G | |
| ENST00000472694.1:n.571A>G | ||
| NM_000558.4:c.*6A>G | NP_000549.1:n.*6A>G | |
| NM_000558.5:c.*6A>G MANE Select | NP_000549.1:n.*6A>G |