Linked Data
dbSNP Id:
rs10179686
gnomAD v2:
2-135214570-C-T
gnomAD v3:
2-134456999-C-T
gnomAD v4:
2-134456999-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.134456999C>T , CM000664.2:g.134456999C>T | GRCh38 |
| NC_000002.11:g.135214570C>T , CM000664.1:g.135214570C>T | GRCh37 |
| NC_000002.10:g.134931040C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281924.6:c.810-223G>A MANE Select | ENSP00000281924.6:n.810-223G>A | |
| ENST00000467316.1:n.1244-223G>A | ||
| ENST00000476823.1:n.4066-223G>A | ||
| NM_030923.4:c.810-223G>A | NP_112185.1:n.810-223G>A | |
| XM_011511949.1:c.630-223G>A | XP_011510251.1:n.630-223G>A | |
| XM_011511950.1:c.477-223G>A | XP_011510252.1:n.477-223G>A | |
| XM_011511950.2:c.477-223G>A | XP_011510252.1:n.477-223G>A | |
| XM_017005061.1:c.477-223G>A | XP_016860550.1:n.477-223G>A | |
| NM_030923.5:c.810-223G>A MANE Select | NP_112185.1:n.810-223G>A |