Linked Data
dbSNP Id:
rs777211577
ExAC:
11:67250619 G / A
gnomAD v2:
11-67250619-G-A
gnomAD v4:
11-67483148-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67483148G>A , CM000673.2:g.67483148G>A | GRCh38 |
| NC_000011.9:g.67250619G>A , CM000673.1:g.67250619G>A | GRCh37 |
| NC_000011.8:g.67007195G>A | NCBI36 |
| NG_008969.1:g.5115G>A , LRG_460:g.5115G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000528641.7:c.-11G>A | ENSP00000434982.3:n.-11G>A | |
| ENST00000682324.1:c.-11G>A | ENSP00000508017.1:n.-11G>A | |
| ENST00000682699.1:c.-11G>A | ENSP00000507935.1:n.-11G>A | |
| ENST00000683237.1:c.-11G>A | ENSP00000507343.1:n.-11G>A | |
| ENST00000684006.1:c.-11G>A | ENSP00000507269.1:n.-11G>A | |
| ENST00000684657.1:c.-11G>A | ENSP00000507961.1:n.-11G>A | |
| ENST00000279146.8:c.-11G>A MANE Select | ENSP00000279146.3:n.-11G>A | |
| ENST00000279146.7:c.-11G>A | ENSP00000279146.3:n.-11G>A | |
| ENST00000528641.6:c.-11G>A | ENSP00000434982.2:n.-11G>A | |
| ENST00000529797.1:n.100G>A | ||
| NM_001302960.1:c.-11G>A | NP_001289889.1:n.-11G>A | |
| NM_003977.3:c.-11G>A | NP_003968.3:n.-11G>A | |
| XM_024448761.1:c.-11G>A | XP_024304529.1:n.-11G>A | |
| NM_003977.4:c.-11G>A MANE Select | NP_003968.3:n.-11G>A | |
| NM_001302960.2:c.-11G>A | NP_001289889.1:n.-11G>A |