Linked Data
dbSNP Id:
rs772940892
ExAC:
19:45296707 C / G
gnomAD v2:
19-45296707-C-G
gnomAD v3:
19-44793450-C-G
gnomAD v4:
19-44793450-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44793450C>G , CM000681.2:g.44793450C>G | GRCh38 |
| NC_000019.9:g.45296707C>G , CM000681.1:g.45296707C>G | GRCh37 |
| NC_000019.8:g.49988547C>G | NCBI36 |
| NG_054718.1:g.20596C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647358.2:c.1138-24C>G MANE Select | ENSP00000494162.1:n.1138-24C>G | |
| ENST00000270279.7:c.1138-24C>G | ENSP00000270279.3:n.1138-24C>G | |
| ENST00000341505.4:c.1000-24C>G | ENSP00000340250.4:n.1000-24C>G | |
| NM_001130852.1:c.1000-24C>G | NP_001124324.1:n.1000-24C>G | |
| NM_012116.3:c.1138-24C>G | NP_036248.3:n.1138-24C>G | |
| XM_005258696.2:c.1138-24C>G | XP_005258753.1:n.1138-24C>G | |
| XM_011526688.1:c.1138-24C>G | XP_011524990.1:n.1138-24C>G | |
| XM_011526689.1:c.1000-24C>G | XP_011524991.1:n.1000-24C>G | |
| XR_935783.1:n.1085-24C>G | ||
| NM_012116.4:c.1138-24C>G MANE Select | NP_036248.3:n.1138-24C>G | |
| XM_005258696.3:c.1138-24C>G | XP_005258753.1:n.1138-24C>G | |
| XM_011526688.2:c.1138-24C>G | XP_011524990.1:n.1138-24C>G | |
| XM_011526689.2:c.1000-24C>G | XP_011524991.1:n.1000-24C>G | |
| XR_935783.2:n.1090-24C>G |