Linked Data
dbSNP Id:
rs1343241428
gnomAD v2:
16-67976746-C-T
gnomAD v3:
16-67942843-C-T
gnomAD v4:
16-67942843-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942843C>T , CM000678.2:g.67942843C>T | GRCh38 |
| NC_000016.9:g.67976746C>T , CM000678.1:g.67976746C>T | GRCh37 |
| NC_000016.8:g.66534247C>T | NCBI36 |
| NG_009778.1:g.6270G>A | |
| NG_033098.1:g.30852G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.427+18G>A MANE Select | ENSP00000264005.5:n.427+18G>A | |
| ENST00000264005.9:c.427+18G>A | ENSP00000264005.5:n.427+18G>A | |
| ENST00000570369.5:c.155+18G>A | ||
| ENST00000570980.1:c.211+18G>A | ENSP00000464651.1:n.211+18G>A | |
| ENST00000573538.5:c.70+18G>A | ENSP00000463220.1:n.70+18G>A | |
| ENST00000573846.1:n.41+18G>A | ||
| ENST00000575277.1:n.205+18G>A | ||
| ENST00000575467.5:c.*122+18G>A | ENSP00000460653.1:n.*122+18G>A | |
| NM_000229.1:c.427+18G>A | NP_000220.1:n.427+18G>A | |
| NM_000229.2:c.427+18G>A MANE Select | NP_000220.1:n.427+18G>A |