Linked Data
dbSNP Id:
rs1335785227
gnomAD v2:
2-241808517-A-G
gnomAD v3:
2-240869100-A-G
gnomAD v4:
2-240869100-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869100A>G , CM000664.2:g.240869100A>G | GRCh38 |
| NC_000002.11:g.241808517A>G , CM000664.1:g.241808517A>G | GRCh37 |
| NC_000002.10:g.241457190A>G | NCBI36 |
| NG_008005.1:g.5356A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.166-70A>G MANE Select | ENSP00000302620.3:n.166-70A>G | |
| ENST00000307503.3:c.166-70A>G | ENSP00000302620.3:n.166-70A>G | |
| ENST00000472436.1:n.186-70A>G | ||
| NM_000030.2:c.166-70A>G | NP_000021.1:n.166-70A>G | |
| XR_924060.1:n.405+1133T>C | ||
| NM_000030.3:c.166-70A>G MANE Select | NP_000021.1:n.166-70A>G |