Linked Data
dbSNP Id:
rs116229144
gnomAD v2:
6-31236800-G-C
gnomAD v3:
6-31269023-G-C
gnomAD v4:
6-31269023-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269023G>C , CM000668.2:g.31269023G>C | GRCh38 |
| NC_000006.11:g.31236800G>C , CM000668.1:g.31236800G>C | GRCh37 |
| NC_000006.10:g.31344779G>C | NCBI36 |
| NG_029422.2:g.8109C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.*146C>G MANE Select | ENSP00000365402.5:n.*146C>G | |
| ENST00000376228.9:c.*146C>G | ENSP00000365402.5:n.*146C>G | |
| ENST00000376237.8:c.*834C>G | ENSP00000365412.4:n.*834C>G | |
| ENST00000383329.7:c.*146C>G | ENSP00000372819.3:n.*146C>G | |
| ENST00000466892.5:n.480C>G | ||
| ENST00000470363.5:n.1005C>G | ||
| ENST00000487245.5:n.1606C>G | ||
| NM_002117.5:c.*146C>G | NP_002108.4:n.*146C>G | |
| NM_002117.6:c.*146C>G MANE Select | NP_002108.4:n.*146C>G |