Linked Data
dbSNP Id:
rs1883603
gnomAD v2:
1-6212941-G-A
gnomAD v3:
1-6152881-G-A
gnomAD v4:
1-6152881-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6152881G>A , CM000663.2:g.6152881G>A | GRCh38 |
| NC_000001.10:g.6212941G>A , CM000663.1:g.6212941G>A | GRCh37 |
| NC_000001.9:g.6135528G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262450.8:c.746-345C>T MANE Select | ENSP00000262450.3:n.746-345C>T | |
| ENST00000262450.7:c.746-345C>T | ENSP00000262450.3:n.746-345C>T | |
| ENST00000496404.1:c.746-345C>T | ENSP00000433676.1:n.746-345C>T | |
| NM_015557.2:c.746-345C>T | NP_056372.1:n.746-345C>T | |
| NM_015557.3:c.746-345C>T MANE Select | NP_056372.1:n.746-345C>T |