Linked Data
dbSNP Id:
rs587705685
gnomAD v2:
1-149899684-G-C
gnomAD v3:
1-149927792-G-C
gnomAD v4:
1-149927792-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149927792G>C , CM000663.2:g.149927792G>C | GRCh38 |
| NC_000001.10:g.149899684G>C , CM000663.1:g.149899684G>C | GRCh37 |
| NC_000001.9:g.148166308G>C | NCBI36 |
| NG_032777.1:g.5461C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.9:c.-33C>G MANE Select | ENSP00000271628.8:n.-33C>G | |
| ENST00000271628.8:c.-33C>G | ENSP00000271628.8:n.-33C>G | |
| NM_005850.4:c.-33C>G | NP_005841.1:n.-33C>G | |
| NM_005850.5:c.-33C>G MANE Select | NP_005841.1:n.-33C>G |