Linked Data
dbSNP Id:
rs142189161
gnomAD v2:
7-146374022-A-G
gnomAD v3:
7-146676930-A-G
gnomAD v4:
7-146676930-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.146676930A>G , CM000669.2:g.146676930A>G | GRCh38 |
| NC_000007.13:g.146374022A>G , CM000669.1:g.146374022A>G | GRCh37 |
| NC_000007.12:g.146004955A>G | NCBI36 |
| NG_007092.2:g.565570A>G | |
| NG_007092.3:g.565930A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.98-97341A>G MANE Select | ENSP00000354778.3:n.98-97341A>G | |
| ENST00000637150.1:n.27-97341A>G | ||
| ENST00000361727.7:c.98-97341A>G | ENSP00000354778.3:n.98-97341A>G | |
| ENST00000625365.2:c.98-97341A>G | ENSP00000485955.1:n.98-97341A>G | |
| NM_014141.5:c.98-97341A>G | NP_054860.1:n.98-97341A>G | |
| XM_017011950.2:c.98-97341A>G | XP_016867439.1:n.98-97341A>G | |
| NM_014141.6:c.98-97341A>G MANE Select | NP_054860.1:n.98-97341A>G |