Linked Data
dbSNP Id:
rs1191856365
gnomAD v2:
16-20400732-A-G
gnomAD v3:
16-20389410-A-G
gnomAD v4:
16-20389410-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20389410A>G , CM000678.2:g.20389410A>G | GRCh38 |
| NC_000016.9:g.20400732A>G , CM000678.1:g.20400732A>G | GRCh37 |
| NC_000016.8:g.20308233A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302451.9:c.203-4559T>C MANE Select | ENSP00000305465.4:n.203-4559T>C | |
| ENST00000302451.8:c.203-4559T>C | ENSP00000305465.4:n.203-4559T>C | |
| ENST00000575561.1:c.203-501T>C | ENSP00000459161.1:n.203-501T>C | |
| NM_174924.1:c.203-4559T>C | NP_777584.1:n.203-4559T>C | |
| XM_006721024.1:c.203-4559T>C | XP_006721087.1:n.203-4559T>C | |
| XM_011545764.1:c.203-4559T>C | XP_011544066.1:n.203-4559T>C | |
| XM_011545765.1:c.203-4559T>C | XP_011544067.1:n.203-4559T>C | |
| XR_950754.1:n.457-4559T>C | ||
| NM_174924.2:c.203-4559T>C MANE Select | NP_777584.1:n.203-4559T>C |