Linked Data
dbSNP Id:
rs12393627
gnomAD v2:
X-2885723-A-G
gnomAD v3:
X-2967682-A-G
gnomAD v4:
X-2967682-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.2967682A>G , CM000685.2:g.2967682A>G | GRCh38 |
| NC_000023.10:g.2885723A>G , CM000685.1:g.2885723A>G | GRCh37 |
| NC_000023.9:g.2895723A>G | NCBI36 |
| NG_007091.1:g.1589T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000540563.6:c.-21+467T>C | ENSP00000438198.2:n.-21+467T>C | |
| ENST00000684117.1:c.-69+467T>C | ENSP00000508337.1:n.-69+467T>C | |
| ENST00000684687.1:c.-69+467T>C | ENSP00000507266.1:n.-69+467T>C | |
| ENST00000672027.1:c.-232+467T>C | ENSP00000500220.1:n.-232+467T>C | |
| ENST00000672097.1:c.-21+467T>C | ENSP00000500727.1:n.-21+467T>C | |
| ENST00000672606.1:c.-21+467T>C | ENSP00000500638.1:n.-21+467T>C | |
| ENST00000672761.1:c.-21+467T>C | ENSP00000500108.1:n.-21+467T>C | |
| ENST00000673032.1:c.-138+467T>C | ENSP00000500778.1:n.-138+467T>C | |
| ENST00000540563.5:c.7+467T>C | ENSP00000438198.1:n.7+467T>C | |
| NM_001282631.1:c.7+467T>C | NP_001269560.1:n.7+467T>C | |
| XM_005274518.2:c.7+467T>C | XP_005274575.1:n.7+467T>C | |
| XM_017029525.1:c.-232+467T>C | XP_016885014.1:n.-232+467T>C | |
| NM_001282631.2:c.-21+467T>C | NP_001269560.2:n.-21+467T>C | |
| NM_001369079.1:c.7+467T>C | NP_001356008.1:n.7+467T>C | |
| NM_001369080.1:c.-232+467T>C | NP_001356009.1:n.-232+467T>C |