Linked Data
dbSNP Id:
rs747445264
gnomAD v2:
21-43802423-T-C
gnomAD v3:
21-42382314-T-C
gnomAD v4:
21-42382314-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42382314T>C , CM000683.2:g.42382314T>C | GRCh38 |
| NC_000021.8:g.43802423T>C , CM000683.1:g.43802423T>C | GRCh37 |
| NC_000021.7:g.42675492T>C | NCBI36 |
| NG_011629.1:g.18778A>G | |
| NG_011629.2:g.18778A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433957.7:c.783-80A>G | ENSP00000411013.3:n.783-80A>G | |
| ENST00000644384.2:c.783-80A>G MANE Select | ENSP00000494414.1:n.783-80A>G | |
| ENST00000652415.1:c.783-80A>G | ENSP00000498756.1:n.783-80A>G | |
| ENST00000291532.7:c.783-80A>G | ENSP00000291532.3:n.783-80A>G | |
| ENST00000398397.3:c.783-80A>G | ENSP00000381434.3:n.783-80A>G | |
| ENST00000398405.5:c.777-80A>G | ENSP00000381442.1:n.777-80A>G | |
| ENST00000433957.6:c.783-80A>G | ENSP00000411013.2:n.783-80A>G | |
| ENST00000474596.5:n.651-80A>G | ||
| ENST00000476848.5:n.1438A>G | ||
| ENST00000478680.1:n.60-80A>G | ||
| ENST00000482761.1:n.1070-80A>G | ||
| NM_001256317.1:c.783-80A>G | NP_001243246.1:n.783-80A>G | |
| NM_024022.2:c.783-80A>G | NP_076927.1:n.783-80A>G | |
| NM_032404.2:c.402-80A>G | NP_115780.1:n.402-80A>G | |
| NM_032405.1:c.783-80A>G | NP_115781.1:n.783-80A>G | |
| NR_046020.1:n.1739-80A>G | ||
| NM_001256317.2:c.783-80A>G | NP_001243246.1:n.783-80A>G | |
| NM_024022.3:c.783-80A>G | NP_076927.1:n.783-80A>G | |
| NM_032405.2:c.783-80A>G | NP_115781.1:n.783-80A>G | |
| NM_001256317.3:c.783-80A>G MANE Select | NP_001243246.1:n.783-80A>G | |
| NM_024022.4:c.783-80A>G | NP_076927.1:n.783-80A>G | |
| NM_032404.3:c.402-80A>G | NP_115780.1:n.402-80A>G |