Linked Data
dbSNP Id:
rs748880827
ExAC:
1:215916495 G / T
gnomAD v2:
1-215916495-G-T
gnomAD v4:
1-215743153-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215743153G>T , CM000663.2:g.215743153G>T | GRCh38 |
| NC_000001.10:g.215916495G>T , CM000663.1:g.215916495G>T | GRCh37 |
| NC_000001.9:g.213983118G>T | NCBI36 |
| NG_009497.1:g.685244C>A | |
| NG_009497.2:g.685296C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11548+24C>A MANE Select | ENSP00000305941.3:n.11548+24C>A | |
| ENST00000674083.1:c.11548+24C>A | ENSP00000501296.1:n.11548+24C>A | |
| ENST00000307340.7:c.11548+24C>A | ENSP00000305941.3:n.11548+24C>A | |
| NM_206933.2:c.11548+24C>A | NP_996816.2:n.11548+24C>A | |
| NM_206933.3:c.11548+24C>A | NP_996816.2:n.11548+24C>A | |
| NM_206933.4:c.11548+24C>A MANE Select | NP_996816.3:n.11548+24C>A |