Linked Data
dbSNP Id:
rs759019639
ExAC:
1:94496516 C / T
gnomAD v2:
1-94496516-C-T
gnomAD v4:
1-94030960-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94030960C>T , CM000663.2:g.94030960C>T | GRCh38 |
| NC_000001.10:g.94496516C>T , CM000663.1:g.94496516C>T | GRCh37 |
| NC_000001.9:g.94269104C>T | NCBI36 |
| NG_009073.1:g.95190G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.4253+36G>A MANE Select | ENSP00000359245.3:n.4253+36G>A | |
| ENST00000370225.3:c.4253+36G>A | ENSP00000359245.3:n.4253+36G>A | |
| ENST00000536513.5:c.629+36G>A | ENSP00000439707.2:n.629+36G>A | |
| NM_000350.2:c.4253+36G>A | NP_000341.2:n.4253+36G>A | |
| NM_000350.3:c.4253+36G>A MANE Select | NP_000341.2:n.4253+36G>A |