Linked Data
dbSNP Id:
rs11574752
gnomAD v2:
2-219001753-G-A
gnomAD v3:
2-218137030-G-A
gnomAD v4:
2-218137030-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218137030G>A , CM000664.2:g.218137030G>A | GRCh38 |
| NC_000002.11:g.219001753G>A , CM000664.1:g.219001753G>A | GRCh37 |
| NC_000002.10:g.218709998G>A | NCBI36 |
| NG_052975.1:g.16741G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318507.7:c.*1146G>A MANE Select | ENSP00000319635.2:n.*1146G>A | |
| ENST00000318507.6:c.*1146G>A | ENSP00000319635.2:n.*1146G>A | |
| NM_001168298.1:c.*1146G>A | NP_001161770.1:n.*1146G>A | |
| NM_001557.3:c.*1146G>A | NP_001548.1:n.*1146G>A | |
| XM_005246530.2:c.*1146G>A | XP_005246587.1:n.*1146G>A | |
| XM_005246530.3:c.*1146G>A | XP_005246587.1:n.*1146G>A | |
| XM_017003990.1:c.*1146G>A | XP_016859479.1:n.*1146G>A | |
| XM_017003991.1:c.*1146G>A | XP_016859480.1:n.*1146G>A | |
| XM_017003992.1:c.*1146G>A | XP_016859481.1:n.*1146G>A | |
| NM_001557.4:c.*1146G>A MANE Select | NP_001548.1:n.*1146G>A | |
| NM_001168298.2:c.*1146G>A | NP_001161770.1:n.*1146G>A |