Linked Data
dbSNP Id:
rs751630261
ExAC:
1:8044900 C / G
gnomAD v2:
1-8044900-C-G
gnomAD v3:
1-7984840-C-G
gnomAD v4:
1-7984840-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7984840C>G , CM000663.2:g.7984840C>G | GRCh38 |
| NC_000001.10:g.8044900C>G , CM000663.1:g.8044900C>G | GRCh37 |
| NC_000001.9:g.7967487C>G | NCBI36 |
| NG_008271.1:g.28187C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338639.10:c.410-54C>G MANE Select | ENSP00000340278.5:n.410-54C>G | |
| ENST00000338639.9:c.410-54C>G | ENSP00000340278.5:n.410-54C>G | |
| ENST00000377488.5:c.410-54C>G | ENSP00000366708.1:n.410-54C>G | |
| ENST00000377491.5:c.410-54C>G | ENSP00000366711.1:n.410-54C>G | |
| ENST00000377493.9:c.350-54C>G | ENSP00000466242.1:n.350-54C>G | |
| ENST00000469225.1:c.293-24C>G | ENSP00000466756.1:n.293-24C>G | |
| ENST00000493373.5:c.410-54C>G | ENSP00000465404.1:n.410-54C>G | |
| ENST00000493678.5:c.410-54C>G | ENSP00000418770.1:n.410-54C>G | |
| NM_001123377.1:c.410-54C>G | NP_001116849.1:n.410-54C>G | |
| NM_007262.4:c.410-54C>G | NP_009193.2:n.410-54C>G | |
| XM_005263424.2:c.410-54C>G | XP_005263481.1:n.410-54C>G | |
| XM_005263424.3:c.410-54C>G | XP_005263481.1:n.410-54C>G | |
| NM_007262.5:c.410-54C>G MANE Select | NP_009193.2:n.410-54C>G | |
| NM_001123377.2:c.410-54C>G | NP_001116849.1:n.410-54C>G |