Linked Data
dbSNP Id:
rs1150740
gnomAD v2:
6-30030689-C-A
gnomAD v3:
6-30062912-C-A
gnomAD v4:
6-30062912-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30062912C>A , CM000668.2:g.30062912C>A | GRCh38 |
| NC_000006.11:g.30030689C>A , CM000668.1:g.30030689C>A | GRCh37 |
| NC_000006.10:g.30138668C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332435.10:c.356+579C>A MANE Select | ENSP00000331111.5:n.356+579C>A | |
| ENST00000332435.9:c.356+579C>A | ENSP00000331111.5:n.356+579C>A | |
| ENST00000359374.8:c.356+579C>A | ENSP00000352333.4:n.356+579C>A | |
| ENST00000376782.6:c.356+579C>A | ENSP00000365978.2:n.356+579C>A | |
| ENST00000376785.2:c.356+579C>A | ENSP00000365981.2:n.356+579C>A | |
| ENST00000463141.1:n.334+579C>A | ||
| ENST00000471008.5:n.3435+579C>A | ||
| NM_001278785.1:c.356+579C>A | NP_001265714.1:n.356+579C>A | |
| NM_001278786.1:c.356+579C>A | NP_001265715.1:n.356+579C>A | |
| NM_014596.5:c.356+579C>A | NP_055411.1:n.356+579C>A | |
| NM_170783.3:c.356+579C>A | NP_740753.1:n.356+579C>A | |
| NR_103864.1:n.424+579C>A | ||
| NM_170783.4:c.356+579C>A MANE Select | NP_740753.1:n.356+579C>A | |
| NM_001278785.2:c.356+579C>A | NP_001265714.1:n.356+579C>A | |
| NM_001278786.2:c.356+579C>A | NP_001265715.1:n.356+579C>A | |
| NM_014596.6:c.356+579C>A | NP_055411.1:n.356+579C>A | |
| NR_103864.2:n.399+579C>A |