Linked Data
dbSNP Id:
rs533432536
gnomAD v2:
19-48527546-G-A
gnomAD v3:
19-48024289-G-A
gnomAD v4:
19-48024289-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48024289G>A , CM000681.2:g.48024289G>A | GRCh38 |
| NC_000019.9:g.48527546G>A , CM000681.1:g.48527546G>A | GRCh37 |
| NC_000019.8:g.53219358G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000339841.7:c.*8-663G>A MANE Select | ENSP00000340660.2:n.*8-663G>A | |
| ENST00000339841.6:c.*8-663G>A | ENSP00000340660.2:n.*8-663G>A | |
| ENST00000593413.1:c.239-642G>A | ENSP00000470551.1:n.239-642G>A | |
| ENST00000593782.1:c.514-663G>A | ||
| ENST00000597519.5:c.*8-663G>A | ENSP00000471690.1:n.*8-663G>A | |
| ENST00000619003.4:c.*13-663G>A | ENSP00000481506.1:n.*13-663G>A | |
| NM_022142.4:c.*8-663G>A | NP_071425.3:n.*8-663G>A | |
| XM_006723322.2:c.*8-663G>A | XP_006723385.1:n.*8-663G>A | |
| XM_017027130.1:c.*8-663G>A | XP_016882619.1:n.*8-663G>A | |
| NM_022142.5:c.*8-663G>A MANE Select | NP_071425.3:n.*8-663G>A |