Linked Data
dbSNP Id:
rs3930513
gnomAD v2:
11-32455527-C-A
gnomAD v3:
11-32433981-C-A
gnomAD v4:
11-32433981-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32433981C>A , CM000673.2:g.32433981C>A | GRCh38 |
| NC_000011.9:g.32455527C>A , CM000673.1:g.32455527C>A | GRCh37 |
| NC_000011.8:g.32412103C>A | NCBI36 |
| NG_009272.1:g.6561G>T , LRG_525:g.6561G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332351.9:c.661+719G>T | ENSP00000331327.5:n.661+719G>T | |
| ENST00000379077.9:c.661+719G>T | ENSP00000368368.5:n.661+719G>T | |
| ENST00000448076.9:c.661+719G>T | ENSP00000413452.5:n.661+719G>T | |
| ENST00000452863.10:c.661+719G>T MANE Select | ENSP00000415516.5:n.661+719G>T | |
| ENST00000639563.3:c.661+719G>T | ENSP00000492269.3:n.661+719G>T | |
| ENST00000640146.2:c.-9G>T | ENSP00000491984.2:n.-9G>T | |
| ENST00000332351.7:c.646+719G>T | ENSP00000331327.3:n.646+719G>T | |
| ENST00000379077.7:c.646+719G>T | ENSP00000368368.3:n.646+719G>T | |
| ENST00000448076.7:c.646+719G>T | ENSP00000413452.3:n.646+719G>T | |
| ENST00000452863.7:c.646+719G>T | ENSP00000415516.3:n.646+719G>T | |
| NM_000378.4:c.646+719G>T | NP_000369.3:n.646+719G>T | |
| NM_024424.3:c.646+719G>T | NP_077742.2:n.646+719G>T | |
| NM_024426.4:c.646+719G>T | NP_077744.3:n.646+719G>T | |
| NM_000378.5:c.661+719G>T | NP_000369.4:n.661+719G>T | |
| NM_024424.4:c.661+719G>T | NP_077742.3:n.661+719G>T | |
| NM_024426.5:c.661+719G>T | NP_077744.4:n.661+719G>T | |
| NR_160306.1:n.840+719G>T | ||
| NM_000378.6:c.661+719G>T | NP_000369.4:n.661+719G>T | |
| NM_024424.5:c.661+719G>T | NP_077742.3:n.661+719G>T | |
| NM_024426.6:c.661+719G>T MANE Select | NP_077744.4:n.661+719G>T |