Linked Data
dbSNP Id:
rs759677971
ExAC:
5:131944946 A / T
gnomAD v2:
5-131944946-A-T
gnomAD v4:
5-132609254-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132609254A>T , CM000667.2:g.132609254A>T | GRCh38 |
| NC_000005.9:g.131944946A>T , CM000667.1:g.131944946A>T | GRCh37 |
| NC_000005.8:g.131972845A>T | NCBI36 |
| NG_021151.1:g.57331A>T | |
| NG_021151.2:g.57278A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.2923-29A>T MANE Select | ENSP00000368100.4:n.2923-29A>T | |
| ENST00000638452.2:c.2626-29A>T | ENSP00000492349.2:n.2626-29A>T | |
| ENST00000638504.1:n.2531-29A>T | ||
| ENST00000638568.2:c.2626-29A>T | ENSP00000491158.2:n.2626-29A>T | |
| ENST00000639899.1:n.3442-29A>T | ||
| ENST00000640655.2:c.2626-29A>T | ENSP00000491596.2:n.2626-29A>T | |
| ENST00000651160.1:c.*1067-29A>T | ENSP00000498829.1:n.*1067-29A>T | |
| ENST00000651723.1:c.*3006-29A>T | ENSP00000498237.1:n.*3006-29A>T | |
| ENST00000378823.7:c.2923-29A>T | ENSP00000368100.4:n.2923-29A>T | |
| ENST00000423956.5:c.*1109-29A>T | ENSP00000390971.1:n.*1109-29A>T | |
| ENST00000533482.5:c.*2549-29A>T | ENSP00000431225.1:n.*2549-29A>T | |
| NM_005732.3:c.2923-29A>T | NP_005723.2:n.2923-29A>T | |
| NM_005732.4:c.2923-29A>T MANE Select | NP_005723.2:n.2923-29A>T |