Linked Data
dbSNP Id:
rs1320710208
gnomAD v2:
6-31239247-C-G
gnomAD v3:
6-31271470-C-G
gnomAD v4:
6-31271470-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271470C>G , CM000668.2:g.31271470C>G | GRCh38 |
| NC_000006.11:g.31239247C>G , CM000668.1:g.31239247C>G | GRCh37 |
| NC_000006.10:g.31347226C>G | NCBI36 |
| NG_029422.2:g.5662G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.344-122G>C MANE Select | ENSP00000365402.5:n.344-122G>C | |
| ENST00000376228.9:c.344-122G>C | ENSP00000365402.5:n.344-122G>C | |
| ENST00000376237.8:c.343+129G>C | ENSP00000365412.4:n.343+129G>C | |
| ENST00000383329.7:c.344-122G>C | ENSP00000372819.3:n.344-122G>C | |
| ENST00000415537.1:c.342-122G>C | ||
| ENST00000484378.1:n.491G>C | ||
| ENST00000487245.5:n.581G>C | ||
| ENST00000495835.1:n.533-122G>C | ||
| NM_002117.5:c.344-122G>C | NP_002108.4:n.344-122G>C | |
| NM_002117.6:c.344-122G>C MANE Select | NP_002108.4:n.344-122G>C |