Linked Data
dbSNP Id:
rs748911093
gnomAD v2:
5-6620106-G-A
gnomAD v3:
5-6619993-G-A
gnomAD v4:
5-6619993-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.6619993G>A , CM000667.2:g.6619993G>A | GRCh38 |
| NC_000005.9:g.6620106G>A , CM000667.1:g.6620106G>A | GRCh37 |
| NC_000005.8:g.6673106G>A | NCBI36 |
| NG_028215.1:g.18368C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264670.11:c.815+113C>T MANE Select | ENSP00000264670.6:n.815+113C>T | |
| ENST00000264670.10:c.815+113C>T | ENSP00000264670.6:n.815+113C>T | |
| ENST00000504374.5:c.*121+113C>T | ENSP00000421783.1:n.*121+113C>T | |
| ENST00000505892.5:n.1384+113C>T | ||
| ENST00000506139.5:c.710+113C>T | ENSP00000420957.1:n.710+113C>T | |
| NM_001193455.1:c.710+113C>T | NP_001180384.1:n.710+113C>T | |
| NM_017755.5:c.815+113C>T | NP_060225.4:n.815+113C>T | |
| NR_037947.1:n.1111+113C>T | ||
| NM_017755.6:c.815+113C>T MANE Select | NP_060225.4:n.815+113C>T | |
| NM_001193455.2:c.710+113C>T | NP_001180384.1:n.710+113C>T | |
| NR_037947.2:n.795+113C>T |