Linked Data
dbSNP Id:
rs546530268
gnomAD v2:
20-948841-T-C
gnomAD v3:
20-968198-T-C
gnomAD v4:
20-968198-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.968198T>C , CM000682.2:g.968198T>C | GRCh38 |
| NC_000020.10:g.948841T>C , CM000682.1:g.948841T>C | GRCh37 |
| NC_000020.9:g.896841T>C | NCBI36 |
| NG_013043.1:g.39067A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217260.9:c.80-60A>G MANE Select | ENSP00000217260.4:n.80-60A>G | |
| ENST00000217260.8:c.80-60A>G | ENSP00000217260.4:n.80-60A>G | |
| ENST00000400634.2:c.80-60A>G | ENSP00000383475.2:n.80-60A>G | |
| NM_001029871.3:c.80-60A>G | NP_001025042.2:n.80-60A>G | |
| NM_001040007.2:c.80-60A>G | NP_001035096.1:n.80-60A>G | |
| XM_011529232.1:c.128-60A>G | XP_011527534.1:n.128-60A>G | |
| XM_011529233.1:c.128-60A>G | XP_011527535.1:n.128-60A>G | |
| XR_937068.1:n.200-60A>G | ||
| XR_937069.1:n.195-60A>G | ||
| XM_017027839.1:c.80-60A>G | XP_016883328.1:n.80-60A>G | |
| NM_001029871.4:c.80-60A>G MANE Select | NP_001025042.2:n.80-60A>G | |
| NM_001040007.3:c.80-60A>G | NP_001035096.1:n.80-60A>G |