Linked Data
dbSNP Id:
rs138916004
gnomAD v2:
12-65582188-A-G
gnomAD v3:
12-65188408-A-G
gnomAD v4:
12-65188408-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65188408A>G , CM000674.2:g.65188408A>G | GRCh38 |
| NC_000012.11:g.65582188A>G , CM000674.1:g.65582188A>G | GRCh37 |
| NC_000012.10:g.63868455A>G | NCBI36 |
| NG_016210.1:g.23838A>G | |
| NG_016210.2:g.23838A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000308330.3:c.1522+17290A>G MANE Select | ENSP00000308369.2:n.1522+17290A>G | |
| ENST00000308330.2:c.1522+17290A>G | ENSP00000308369.2:n.1522+17290A>G | |
| ENST00000541171.1:n.836+17990A>G | ||
| NM_001167614.1:c.1522+17290A>G | NP_001161086.1:n.1522+17290A>G | |
| NM_014319.4:c.1522+17290A>G | NP_055134.2:n.1522+17290A>G | |
| NM_014319.5:c.1522+17290A>G MANE Select | NP_055134.2:n.1522+17290A>G | |
| NM_001167614.2:c.1522+17290A>G | NP_001161086.1:n.1522+17290A>G |