Linked Data
dbSNP Id:
rs12050217
gnomAD v2:
14-96728753-A-G
gnomAD v3:
14-96262416-A-G
gnomAD v4:
14-96262416-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96262416A>G , CM000676.2:g.96262416A>G | GRCh38 |
| NC_000014.8:g.96728753A>G , CM000676.1:g.96728753A>G | GRCh37 |
| NC_000014.7:g.95798506A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216629.11:c.-129-236A>G MANE Select | ENSP00000216629.6:n.-129-236A>G | |
| ENST00000216629.10:c.-129-236A>G | ENSP00000216629.6:n.-129-236A>G | |
| ENST00000553356.1:c.-129-236A>G | ENSP00000452064.1:n.-129-236A>G | |
| ENST00000553811.1:c.75-236A>G | ENSP00000450984.1:n.75-236A>G | |
| ENST00000555847.1:n.256-236A>G | ||
| NM_000710.3:c.-129-236A>G | NP_000701.2:n.-129-236A>G | |
| NM_000710.4:c.-129-236A>G MANE Select | NP_000701.2:n.-129-236A>G | |
| NM_001386007.1:c.-10-1257A>G | NP_001372936.1:n.-10-1257A>G |