Linked Data
dbSNP Id:
rs10903034
gnomAD v2:
1-24480905-C-T
gnomAD v3:
1-24154415-C-T
gnomAD v4:
1-24154415-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.24154415C>T , CM000663.2:g.24154415C>T | GRCh38 |
| NC_000001.10:g.24480905C>T , CM000663.1:g.24480905C>T | GRCh37 |
| NC_000001.9:g.24353492C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327535.6:c.*2715G>A MANE Select | ENSP00000327824.1:n.*2715G>A | |
| ENST00000327535.5:c.*2715G>A | ENSP00000327824.1:n.*2715G>A | |
| NM_170743.3:c.*2715G>A | NP_734464.1:n.*2715G>A | |
| NM_173064.2:c.*2715G>A | NP_775087.1:n.*2715G>A | |
| NM_173065.2:c.*3412G>A | NP_775088.1:n.*3412G>A | |
| XM_017000479.1:c.*2715G>A | XP_016855968.1:n.*2715G>A | |
| XM_024453668.1:c.*2715G>A | XP_024309436.1:n.*2715G>A | |
| NM_170743.4:c.*2715G>A MANE Select | NP_734464.1:n.*2715G>A | |
| NM_173064.3:c.*2715G>A | NP_775087.1:n.*2715G>A | |
| NM_173065.3:c.*3412G>A | NP_775088.1:n.*3412G>A |