Linked Data
dbSNP Id:
rs849141
gnomAD v2:
7-28185091-A-G
gnomAD v3:
7-28145472-A-G
gnomAD v4:
7-28145472-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.28145472A>G , CM000669.2:g.28145472A>G | GRCh38 |
| NC_000007.13:g.28185091A>G , CM000669.1:g.28185091A>G | GRCh37 |
| NC_000007.12:g.28151616A>G | NCBI36 |
| NG_011499.1:g.40347T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000283928.10:c.115+34991T>C MANE Select | ENSP00000283928.5:n.115+34991T>C | |
| ENST00000649905.1:c.115+34991T>C | ENSP00000497321.1:n.115+34991T>C | |
| ENST00000283928.9:c.115+34991T>C | ENSP00000283928.5:n.115+34991T>C | |
| ENST00000452993.5:c.115+34991T>C | ENSP00000415984.1:n.115+34991T>C | |
| ENST00000454041.1:c.115+34991T>C | ENSP00000399083.1:n.115+34991T>C | |
| NM_175061.3:c.115+34991T>C | NP_778231.2:n.115+34991T>C | |
| XM_006715656.1:c.-140+34991T>C | XP_006715719.1:n.-140+34991T>C | |
| XR_926924.1:n.230+34991T>C | ||
| NM_175061.4:c.115+34991T>C MANE Select | NP_778231.2:n.115+34991T>C |