Linked Data
dbSNP Id:
rs113745728
gnomAD v2:
2-189910831-A-C
gnomAD v3:
2-189046105-A-C
gnomAD v4:
2-189046105-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189046105A>C , CM000664.2:g.189046105A>C | GRCh38 |
| NC_000002.11:g.189910831A>C , CM000664.1:g.189910831A>C | GRCh37 |
| NC_000002.10:g.189619076A>C | NCBI36 |
| NG_011799.1:g.138775T>G | |
| NG_011799.2:g.138775T>G | |
| NG_011799.3:g.184197T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.3202-198T>G MANE Select | ENSP00000364000.3:n.3202-198T>G | |
| ENST00000374866.7:c.3202-198T>G | ENSP00000364000.3:n.3202-198T>G | |
| ENST00000618828.1:c.2041-198T>G | ENSP00000482184.1:n.2041-198T>G | |
| NM_000393.3:c.3202-198T>G | NP_000384.2:n.3202-198T>G | |
| XM_011510573.1:c.3064-198T>G | XP_011508875.1:n.3064-198T>G | |
| NM_000393.4:c.3202-198T>G | NP_000384.2:n.3202-198T>G | |
| XM_011510573.3:c.3064-198T>G | XP_011508875.1:n.3064-198T>G | |
| NM_000393.5:c.3202-198T>G MANE Select | NP_000384.2:n.3202-198T>G |