Linked Data
dbSNP Id:
rs1464343491
gnomAD v2:
16-67974627-C-T
gnomAD v3:
16-67940724-C-T
gnomAD v4:
16-67940724-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940724C>T , CM000678.2:g.67940724C>T | GRCh38 |
| NC_000016.9:g.67974627C>T , CM000678.1:g.67974627C>T | GRCh37 |
| NC_000016.8:g.66532128C>T | NCBI36 |
| NG_009778.1:g.8389G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.749-246G>A MANE Select | ENSP00000264005.5:n.749-246G>A | |
| ENST00000264005.9:c.749-246G>A | ENSP00000264005.5:n.749-246G>A | |
| ENST00000570369.5:c.156-650G>A | ||
| ENST00000570980.1:c.533-246G>A | ENSP00000464651.1:n.533-246G>A | |
| ENST00000573538.5:c.486+13G>A | ENSP00000463220.1:n.486+13G>A | |
| NM_000229.1:c.749-246G>A | NP_000220.1:n.749-246G>A | |
| NM_000229.2:c.749-246G>A MANE Select | NP_000220.1:n.749-246G>A |