Linked Data
dbSNP Id:
rs7799181
gnomAD v2:
7-146048830-A-G
gnomAD v3:
7-146351738-A-G
gnomAD v4:
7-146351738-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.146351738A>G , CM000669.2:g.146351738A>G | GRCh38 |
| NC_000007.13:g.146048830A>G , CM000669.1:g.146048830A>G | GRCh37 |
| NC_000007.12:g.145679763A>G | NCBI36 |
| NG_007092.2:g.240378A>G | |
| NG_007092.3:g.240738A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361727.8:c.97+234765A>G MANE Select | ENSP00000354778.3:n.97+234765A>G | |
| ENST00000637150.1:n.26+234765A>G | ||
| ENST00000361727.7:c.97+234765A>G | ENSP00000354778.3:n.97+234765A>G | |
| ENST00000625365.2:c.97+234765A>G | ENSP00000485955.1:n.97+234765A>G | |
| NM_014141.5:c.97+234765A>G | NP_054860.1:n.97+234765A>G | |
| XM_017011950.2:c.97+234765A>G | XP_016867439.1:n.97+234765A>G | |
| NM_014141.6:c.97+234765A>G MANE Select | NP_054860.1:n.97+234765A>G |