Linked Data
dbSNP Id:
rs10508727
gnomAD v2:
10-28025771-C-T
gnomAD v3:
10-27736842-C-T
gnomAD v4:
10-27736842-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27736842C>T , CM000672.2:g.27736842C>T | GRCh38 |
| NC_000010.10:g.28025771C>T , CM000672.1:g.28025771C>T | GRCh37 |
| NC_000010.9:g.28065777C>T | NCBI36 |
| NG_029181.1:g.14008G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000419761.6:c.349-1468G>A MANE Select | ENSP00000400896.1:n.349-1468G>A | |
| ENST00000375790.9:c.349-1468G>A | ENSP00000364946.4:n.349-1468G>A | |
| ENST00000419761.5:c.349-1468G>A | ENSP00000400896.1:n.349-1468G>A | |
| ENST00000460919.2:c.349-1468G>A | ENSP00000452751.1:n.349-1468G>A | |
| NM_001242702.1:c.349-1468G>A | NP_001229631.1:n.349-1468G>A | |
| NM_173576.2:c.349-1468G>A | NP_775847.2:n.349-1468G>A | |
| XM_006717438.2:c.349-1468G>A | XP_006717501.1:n.349-1468G>A | |
| XM_006717440.2:c.349-1468G>A | XP_006717503.1:n.349-1468G>A | |
| XM_011519450.1:c.349-1468G>A | XP_011517752.1:n.349-1468G>A | |
| XM_017016105.1:c.349-1468G>A | XP_016871594.1:n.349-1468G>A | |
| XM_017016106.1:c.349-1468G>A | XP_016871595.1:n.349-1468G>A | |
| XM_017016107.1:c.349-1468G>A | XP_016871596.1:n.349-1468G>A | |
| XM_017016108.1:c.349-1468G>A | XP_016871597.1:n.349-1468G>A | |
| NM_173576.3:c.349-1468G>A MANE Select | NP_775847.2:n.349-1468G>A | |
| NM_001242702.2:c.349-1468G>A | NP_001229631.1:n.349-1468G>A |