Linked Data
dbSNP Id:
rs921509753
gnomAD v3:
6-25787825-A-C
gnomAD v4:
6-25787825-A-C
MyVariant Identifiers:
chr6:g.25787825A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.25787825A>C , CM000668.2:g.25787825A>C | GRCh38 |
| NC_000006.11:g.25788053A>C , CM000668.1:g.25788053A>C | GRCh37 |
| NC_000006.10:g.25896032A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244527.10:c.*3-4607T>G MANE Select | ENSP00000244527.4:n.*3-4607T>G | |
| ENST00000244527.8:c.*3-4607T>G | ENSP00000244527.4:n.*3-4607T>G | |
| ENST00000377886.6:c.*658-4607T>G | ENSP00000367118.2:n.*658-4607T>G | |
| NM_005074.3:c.*3-4607T>G | NP_005065.2:n.*3-4607T>G | |
| XM_011514818.1:c.1179-4607T>G | XP_011513120.1:n.1179-4607T>G | |
| XM_011514818.2:c.1329-4607T>G | XP_011513120.2:n.1329-4607T>G | |
| XM_017011200.1:c.*3-4607T>G | XP_016866689.1:n.*3-4607T>G | |
| XM_017011201.2:c.*2+10958T>G | XP_016866690.1:n.*2+10958T>G | |
| NM_005074.5:c.*3-4607T>G MANE Select | NP_005065.2:n.*3-4607T>G |