Linked Data
dbSNP Id:
rs759758831
gnomAD v2:
12-49424654-G-A
gnomAD v3:
12-49030871-G-A
gnomAD v4:
12-49030871-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49030871G>A , CM000674.2:g.49030871G>A | GRCh38 |
| NC_000012.11:g.49424654G>A , CM000674.1:g.49424654G>A | GRCh37 |
| NC_000012.10:g.47710921G>A | NCBI36 |
| NG_027827.1:g.29454C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000552391.2:n.371+22C>T | ||
| ENST00000683543.2:c.13671+22C>T | ENSP00000506726.1:n.13671+22C>T | |
| ENST00000685166.1:c.13680+22C>T | ENSP00000509386.1:n.13680+22C>T | |
| ENST00000685982.1:c.139-103C>T | ENSP00000508613.1:n.139-103C>T | |
| ENST00000691986.1:c.138+304C>T | ENSP00000509196.1:n.138+304C>T | |
| ENST00000692637.1:c.13668+22C>T | ENSP00000509666.1:n.13668+22C>T | |
| ENST00000692973.1:c.272+22C>T | ENSP00000508893.1:n.272+22C>T | |
| ENST00000301067.12:c.13671+22C>T MANE Select | ENSP00000301067.7:n.13671+22C>T | |
| ENST00000301067.11:c.13671+22C>T | ENSP00000301067.7:n.13671+22C>T | |
| ENST00000552391.1:n.371+22C>T | ||
| NM_003482.3:c.13671+22C>T | NP_003473.3:n.13671+22C>T | |
| XM_005269162.3:c.13671+22C>T | XP_005269219.1:n.13671+22C>T | |
| XM_006719614.2:c.13680+22C>T | XP_006719677.1:n.13680+22C>T | |
| XM_006719616.2:c.13668+22C>T | XP_006719679.1:n.13668+22C>T | |
| XM_011538770.1:c.13680+22C>T | XP_011537072.1:n.13680+22C>T | |
| XM_011538771.1:c.13677+22C>T | XP_011537073.1:n.13677+22C>T | |
| XM_011538772.1:c.13671+22C>T | XP_011537074.1:n.13671+22C>T | |
| XM_011538773.1:c.13668+22C>T | XP_011537075.1:n.13668+22C>T | |
| XM_011538774.1:c.13659+22C>T | XP_011537076.1:n.13659+22C>T | |
| XM_011538775.1:c.13680+22C>T | XP_011537077.1:n.13680+22C>T | |
| XM_011538776.1:c.13587+22C>T | XP_011537078.1:n.13587+22C>T | |
| XR_944740.1:n.16000+22C>T | ||
| XM_005269162.4:c.13671+22C>T | XP_005269219.1:n.13671+22C>T | |
| XM_006719614.4:c.13680+22C>T | XP_006719677.1:n.13680+22C>T | |
| XM_006719616.3:c.13668+22C>T | XP_006719679.1:n.13668+22C>T | |
| XM_011538770.2:c.13680+22C>T | XP_011537072.1:n.13680+22C>T | |
| XM_011538771.2:c.13677+22C>T | XP_011537073.1:n.13677+22C>T | |
| XM_011538772.2:c.13671+22C>T | XP_011537074.1:n.13671+22C>T | |
| XM_011538773.2:c.13668+22C>T | XP_011537075.1:n.13668+22C>T | |
| XM_011538774.2:c.13659+22C>T | XP_011537076.1:n.13659+22C>T | |
| XM_011538776.2:c.13587+22C>T | XP_011537078.1:n.13587+22C>T | |
| XR_001748874.1:n.14989+22C>T | ||
| NM_003482.4:c.13671+22C>T MANE Select | NP_003473.3:n.13671+22C>T |