Linked Data
dbSNP Id:
rs11164838
gnomAD v2:
1-93395378-C-T
gnomAD v3:
1-92929821-C-T
gnomAD v4:
1-92929821-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92929821C>T , CM000663.2:g.92929821C>T | GRCh38 |
| NC_000001.10:g.93395378C>T , CM000663.1:g.93395378C>T | GRCh37 |
| NC_000001.9:g.93167966C>T | NCBI36 |
| NG_033051.1:g.36702G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370310.5:c.54+31555G>A MANE Select | ENSP00000359333.4:n.54+31555G>A | |
| ENST00000370310.4:c.54+31555G>A | ENSP00000359333.4:n.54+31555G>A | |
| ENST00000613902.4:c.54+31555G>A | ENSP00000484866.1:n.54+31555G>A | |
| ENST00000615519.4:c.54+31555G>A | ENSP00000483279.1:n.54+31555G>A | |
| ENST00000616709.4:c.54+31555G>A | ENSP00000482718.1:n.54+31555G>A | |
| NM_001006605.4:c.54+31555G>A | NP_001006606.2:n.54+31555G>A | |
| NM_001252269.1:c.54+31555G>A | NP_001239198.1:n.54+31555G>A | |
| NM_001252270.1:c.54+31555G>A | NP_001239199.1:n.54+31555G>A | |
| NM_001252273.1:c.54+31555G>A | NP_001239202.1:n.54+31555G>A | |
| NM_001006605.5:c.54+31555G>A MANE Select | NP_001006606.2:n.54+31555G>A | |
| NM_001252269.2:c.54+31555G>A | NP_001239198.1:n.54+31555G>A | |
| NM_001252270.2:c.54+31555G>A | NP_001239199.1:n.54+31555G>A | |
| NM_001252273.2:c.54+31555G>A | NP_001239202.1:n.54+31555G>A |