Linked Data
dbSNP Id:
rs1195657361
gnomAD v2:
2-55908063-G-A
gnomAD v3:
2-55680928-G-A
gnomAD v4:
2-55680928-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55680928G>A , CM000664.2:g.55680928G>A | GRCh38 |
| NC_000002.11:g.55908063G>A , CM000664.1:g.55908063G>A | GRCh37 |
| NC_000002.10:g.55761567G>A | NCBI36 |
| NG_033012.1:g.17983C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.454-10C>T MANE Select | ENSP00000400646.2:n.454-10C>T | |
| ENST00000260604.8:c.454-10C>T | ENSP00000260604.4:n.454-10C>T | |
| ENST00000415374.5:c.454-10C>T | ENSP00000393953.1:n.454-10C>T | |
| ENST00000429805.1:c.*102-10C>T | ENSP00000411994.1:n.*102-10C>T | |
| ENST00000447944.6:c.454-10C>T | ENSP00000400646.2:n.454-10C>T | |
| NM_033109.4:c.454-10C>T | NP_149100.2:n.454-10C>T | |
| XM_005264629.1:c.214-10C>T | XP_005264686.1:n.214-10C>T | |
| XM_011533142.1:c.454-10C>T | XP_011531444.1:n.454-10C>T | |
| XM_005264629.2:c.214-10C>T | XP_005264686.1:n.214-10C>T | |
| XM_017005172.1:c.214-10C>T | XP_016860661.1:n.214-10C>T | |
| XR_001739010.1:n.484-10C>T | ||
| NM_033109.5:c.454-10C>T MANE Select | NP_149100.2:n.454-10C>T |