Linked Data
dbSNP Id:
rs7724774
gnomAD v2:
5-150585867-G-A
gnomAD v3:
5-151206306-G-A
gnomAD v4:
5-151206306-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151206306G>A , CM000667.2:g.151206306G>A | GRCh38 |
| NC_000005.9:g.150585867G>A , CM000667.1:g.150585867G>A | GRCh37 |
| NC_000005.8:g.150566060G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355417.7:c.49-831C>T MANE Select | ENSP00000347586.2:n.49-831C>T | |
| ENST00000355417.6:c.49-831C>T | ENSP00000347586.2:n.49-831C>T | |
| ENST00000521308.5:n.172-4618C>T | ||
| ENST00000522179.1:n.491-831C>T | ||
| NM_015621.2:c.49-831C>T | NP_056436.2:n.49-831C>T | |
| NM_015621.3:c.49-831C>T MANE Select | NP_056436.2:n.49-831C>T |