Linked Data
dbSNP Id:
rs368252642
gnomAD v2:
19-46307459-G-A
gnomAD v3:
19-45804201-G-A
gnomAD v4:
19-45804201-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45804201G>A , CM000681.2:g.45804201G>A | GRCh38 |
| NC_000019.9:g.46307459G>A , CM000681.1:g.46307459G>A | GRCh37 |
| NC_000019.8:g.50999299G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221538.8:c.1653+51C>T MANE Select | ENSP00000221538.2:n.1653+51C>T | |
| ENST00000221538.7:c.1653+51C>T | ENSP00000221538.2:n.1653+51C>T | |
| ENST00000597055.1:c.1653+51C>T | ENSP00000472630.1:n.1653+51C>T | |
| ENST00000600188.5:c.861+51C>T | ENSP00000471559.1:n.861+51C>T | |
| NM_030785.3:c.1653+51C>T | NP_110412.1:n.1653+51C>T | |
| XM_011527351.1:c.1653+51C>T | XP_011525653.1:n.1653+51C>T | |
| XM_011527351.2:c.1653+51C>T | XP_011525653.1:n.1653+51C>T | |
| NM_030785.4:c.1653+51C>T MANE Select | NP_110412.1:n.1653+51C>T |