Linked Data
dbSNP Id:
rs548987
gnomAD v2:
6-25869371-G-C
gnomAD v3:
6-25869143-G-C
gnomAD v4:
6-25869143-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.25869143G>C , CM000668.2:g.25869143G>C | GRCh38 |
| NC_000006.11:g.25869371G>C , CM000668.1:g.25869371G>C | GRCh37 |
| NC_000006.10:g.25977350G>C | NCBI36 |
| NG_032922.1:g.10101C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360657.7:c.-33-723C>G | ENSP00000353873.3:n.-33-723C>G | |
| ENST00000361703.10:c.-33-723C>G | ENSP00000355307.6:n.-33-723C>G | |
| ENST00000397060.8:c.-33-723C>G MANE Select | ENSP00000380250.4:n.-33-723C>G | |
| ENST00000503922.5:n.73-723C>G | ||
| ENST00000506105.5:c.-33-723C>G | ENSP00000424729.1:n.-33-723C>G | |
| NM_001098486.1:c.-33-723C>G | NP_001091956.1:n.-33-723C>G | |
| NM_006632.3:c.-33-723C>G | NP_006623.2:n.-33-723C>G | |
| NM_001098486.2:c.-33-723C>G MANE Select | NP_001091956.1:n.-33-723C>G | |
| NM_006632.4:c.-33-723C>G | NP_006623.2:n.-33-723C>G |