Linked Data
dbSNP Id:
rs6482463
gnomAD v2:
10-25213128-G-A
gnomAD v3:
10-24924199-G-A
gnomAD v4:
10-24924199-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.24924199G>A , CM000672.2:g.24924199G>A | GRCh38 |
| NC_000010.10:g.25213128G>A , CM000672.1:g.25213128G>A | GRCh37 |
| NC_000010.9:g.25253134G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320152.11:c.339+12985C>T MANE Select | ENSP00000318602.5:n.339+12985C>T | |
| ENST00000320152.10:c.339+12985C>T | ENSP00000318602.5:n.339+12985C>T | |
| ENST00000376376.3:c.339+12985C>T | ENSP00000365556.3:n.339+12985C>T | |
| ENST00000376378.5:c.339+12985C>T | ENSP00000365558.1:n.339+12985C>T | |
| NM_001282786.1:c.339+12985C>T | NP_001269715.1:n.339+12985C>T | |
| NM_020200.6:c.339+12985C>T | NP_064585.1:n.339+12985C>T | |
| XM_011519585.1:c.339+12985C>T | XP_011517887.1:n.339+12985C>T | |
| XM_011519586.1:c.288+12985C>T | XP_011517888.1:n.288+12985C>T | |
| XM_011519587.1:c.288+12985C>T | XP_011517889.1:n.288+12985C>T | |
| XM_011519588.1:c.159+12985C>T | XP_011517890.1:n.159+12985C>T | |
| XM_011519589.1:c.339+12985C>T | XP_011517891.1:n.339+12985C>T | |
| XM_011519590.1:c.159+12985C>T | XP_011517892.1:n.159+12985C>T | |
| XR_930495.1:n.397+12985C>T | ||
| NM_020200.7:c.339+12985C>T MANE Select | NP_064585.1:n.339+12985C>T | |
| NM_001282786.2:c.339+12985C>T | NP_001269715.1:n.339+12985C>T |