Linked Data
dbSNP Id:
rs16889965
gnomAD v2:
8-40667718-G-T
gnomAD v3:
8-40810199-G-T
gnomAD v4:
8-40810199-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.40810199G>T , CM000670.2:g.40810199G>T | GRCh38 |
| NC_000008.10:g.40667718G>T , CM000670.1:g.40667718G>T | GRCh37 |
| NC_000008.9:g.40786875G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297737.11:c.102+15376C>A MANE Select | ENSP00000297737.6:n.102+15376C>A | |
| ENST00000297737.10:c.102+15376C>A | ENSP00000297737.6:n.102+15376C>A | |
| ENST00000315769.11:c.102+15376C>A | ENSP00000319785.7:n.102+15376C>A | |
| ENST00000519406.5:c.102+15376C>A | ENSP00000428423.1:n.102+15376C>A | |
| ENST00000522623.1:c.103-1628C>A | ENSP00000429068.1:n.103-1628C>A | |
| ENST00000523188.5:c.102+15376C>A | ENSP00000430050.1:n.102+15376C>A | |
| ENST00000523542.5:c.103-1628C>A | ENSP00000427918.1:n.103-1628C>A | |
| ENST00000523823.1:n.523-1628C>A | ||
| NM_001135731.1:c.102+15376C>A | NP_001129203.1:n.102+15376C>A | |
| NM_024645.2:c.102+15376C>A | NP_078921.1:n.102+15376C>A | |
| XM_011544643.1:c.132+15376C>A | XP_011542945.1:n.132+15376C>A | |
| XM_011544644.1:c.132+15376C>A | XP_011542946.1:n.132+15376C>A | |
| XM_011544645.1:c.132+15376C>A | XP_011542947.1:n.132+15376C>A | |
| XM_017013836.2:c.102+15376C>A | XP_016869325.1:n.102+15376C>A | |
| XM_017013837.2:c.-99-1628C>A | XP_016869326.1:n.-99-1628C>A | |
| XM_017013838.2:c.-131+15376C>A | XP_016869327.1:n.-131+15376C>A | |
| XM_024447275.1:c.-193-1628C>A | XP_024303043.1:n.-193-1628C>A | |
| XM_024447276.1:c.-99-1628C>A | XP_024303044.1:n.-99-1628C>A | |
| XM_024447277.1:c.-131+15376C>A | XP_024303045.1:n.-131+15376C>A | |
| NM_024645.3:c.102+15376C>A MANE Select | NP_078921.1:n.102+15376C>A | |
| NM_001135731.2:c.102+15376C>A | NP_001129203.1:n.102+15376C>A |