Linked Data
dbSNP Id:
rs762648762
gnomAD v2:
13-113771718-C-T
gnomAD v3:
13-113117404-C-T
gnomAD v4:
13-113117404-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113117404C>T , CM000675.2:g.113117404C>T | GRCh38 |
| NC_000013.10:g.113771718C>T , CM000675.1:g.113771718C>T | GRCh37 |
| NC_000013.9:g.112819719C>T | NCBI36 |
| NG_009262.1:g.16614C>T , LRG_554:g.16614C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.616-69C>T MANE Select | ENSP00000329546.4:n.616-69C>T | |
| ENST00000346342.7:c.616-69C>T | ENSP00000329546.3:n.616-69C>T | |
| ENST00000375581.3:c.682-69C>T | ENSP00000364731.3:n.682-69C>T | |
| ENST00000541084.5:c.430-69C>T | ENSP00000442051.2:n.430-69C>T | |
| NM_000131.4:c.682-69C>T , LRG_554t1:c.682-69C>T | NP_000122.1:n.682-69C>T | |
| NM_001267554.1:c.430-69C>T | NP_001254483.1:n.430-69C>T | |
| NM_019616.3:c.616-69C>T , LRG_554t2:c.616-69C>T | NP_062562.1:n.616-69C>T | |
| NR_051961.1:n.703-69C>T | ||
| XM_006719963.2:c.475-69C>T | XP_006720026.1:n.475-69C>T | |
| XM_011537474.1:c.724-69C>T | XP_011535776.1:n.724-69C>T | |
| XM_011537475.1:c.538-69C>T | XP_011535777.1:n.538-69C>T | |
| XM_011537476.1:c.376-69C>T | XP_011535778.1:n.376-69C>T | |
| XM_011537477.1:c.685-69C>T | XP_011535779.1:n.685-69C>T | |
| XM_006719963.3:c.520-69C>T | XP_006720026.2:n.520-69C>T | |
| XM_011537474.2:c.769-69C>T | XP_011535776.2:n.769-69C>T | |
| XM_011537475.2:c.583-69C>T | XP_011535777.2:n.583-69C>T | |
| XM_011537476.2:c.376-69C>T | XP_011535778.1:n.376-69C>T | |
| NM_019616.4:c.616-69C>T MANE Select | NP_062562.1:n.616-69C>T | |
| NR_051961.2:n.700-69C>T | ||
| NM_001267554.2:c.430-69C>T | NP_001254483.1:n.430-69C>T |