Linked Data
dbSNP Id:
rs758348175
ExAC:
16:57017369 G / A
gnomAD v2:
16-57017369-G-A
gnomAD v4:
16-56983457-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56983457G>A , CM000678.2:g.56983457G>A | GRCh38 |
| NC_000016.9:g.57017369G>A , CM000678.1:g.57017369G>A | GRCh37 |
| NC_000016.8:g.55574870G>A | NCBI36 |
| NG_008952.1:g.26535G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000200676.8:c.1407+46G>A MANE Select | ENSP00000200676.3:n.1407+46G>A | |
| ENST00000200676.7:c.1407+46G>A | ENSP00000200676.3:n.1407+46G>A | |
| ENST00000379780.6:c.1227+46G>A | ENSP00000369106.2:n.1227+46G>A | |
| ENST00000566128.1:c.1212+46G>A | ENSP00000456276.1:n.1212+46G>A | |
| NM_000078.2:c.1407+46G>A | NP_000069.2:n.1407+46G>A | |
| NM_001286085.1:c.1227+46G>A | NP_001273014.1:n.1227+46G>A | |
| NM_000078.3:c.1407+46G>A MANE Select | NP_000069.2:n.1407+46G>A | |
| NM_001286085.2:c.1227+46G>A | NP_001273014.1:n.1227+46G>A |