Linked Data
dbSNP Id:
rs223828
gnomAD v2:
16-57447414-T-C
gnomAD v3:
16-57413502-T-C
gnomAD v4:
16-57413502-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57413502T>C , CM000678.2:g.57413502T>C | GRCh38 |
| NC_000016.9:g.57447414T>C , CM000678.1:g.57447414T>C | GRCh37 |
| NC_000016.8:g.56004915T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000219244.9:c.-59-372T>C MANE Select | ENSP00000219244.4:n.-59-372T>C | |
| ENST00000219244.8:c.-59-372T>C | ENSP00000219244.4:n.-59-372T>C | |
| NM_002987.2:c.-59-372T>C | NP_002978.1:n.-59-372T>C | |
| XM_011523256.1:c.26-372T>C | XP_011521558.1:n.26-372T>C | |
| XM_011523256.2:c.26-372T>C | XP_011521558.1:n.26-372T>C | |
| XM_017023530.1:c.26-369T>C | XP_016879019.1:n.26-369T>C | |
| NM_002987.3:c.-59-372T>C MANE Select | NP_002978.1:n.-59-372T>C |