Linked Data
dbSNP Id:
rs757510789
ExAC:
11:67257735 C / T
gnomAD v2:
11-67257735-C-T
gnomAD v3:
11-67490264-C-T
gnomAD v4:
11-67490264-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490264C>T , CM000673.2:g.67490264C>T | GRCh38 |
| NC_000011.9:g.67257735C>T , CM000673.1:g.67257735C>T | GRCh37 |
| NC_000011.8:g.67014311C>T | NCBI36 |
| NG_008969.1:g.12231C>T , LRG_460:g.12231C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.622+50C>T (AIP) | ||
| ENST00000528641.7:c.456+50C>T (AIP) | ENSP00000434982.3:n.456+50C>T | |
| ENST00000529797.2:n.1157+50C>T (AIP) | ||
| ENST00000682324.1:c.469-733C>T (AIP) | ENSP00000508017.1:n.469-733C>T | |
| ENST00000682659.1:c.276+50C>T (AIP) | ENSP00000507351.1:n.276+50C>T | |
| ENST00000682699.1:c.645+50C>T (AIP) | ENSP00000507935.1:n.645+50C>T | |
| ENST00000683237.1:c.645+50C>T (AIP) | ENSP00000507343.1:n.645+50C>T | |
| ENST00000683856.1:c.468+50C>T (AIP) | ENSP00000507979.1:n.468+50C>T | |
| ENST00000684006.1:c.645+50C>T (AIP) | ENSP00000507269.1:n.645+50C>T | |
| ENST00000684657.1:c.465+50C>T (AIP) | ENSP00000507961.1:n.465+50C>T | |
| ENST00000279146.8:c.645+50C>T (AIP) MANE Select | ENSP00000279146.3:n.645+50C>T | |
| ENST00000279146.7:c.645+50C>T (AIP) | ENSP00000279146.3:n.645+50C>T | |
| ENST00000525341.1:c.297+50C>T (AIP) | ENSP00000476993.1:n.297+50C>T | |
| ENST00000528641.6:c.456+50C>T (AIP) | ENSP00000434982.2:n.456+50C>T | |
| NM_001302959.1:c.468+50C>T (AIP) | NP_001289888.1:n.468+50C>T | |
| NM_001302960.1:c.645+50C>T (AIP) | NP_001289889.1:n.645+50C>T | |
| NM_003977.3:c.645+50C>T (AIP) | NP_003968.3:n.645+50C>T | |
| NR_106810.1:n.20C>T (MIR6752) | ||
| XM_024448761.1:c.645+50C>T (AIP) | XP_024304529.1:n.645+50C>T | |
| NM_003977.4:c.645+50C>T (AIP) MANE Select | NP_003968.3:n.645+50C>T | |
| NM_001302960.2:c.645+50C>T (AIP) | NP_001289889.1:n.645+50C>T | |
| NM_001302959.2:c.468+50C>T (AIP) | NP_001289888.1:n.468+50C>T |