Linked Data
dbSNP Id:
rs565814942
gnomAD v2:
4-86651407-G-A
gnomAD v3:
4-85730254-G-A
gnomAD v4:
4-85730254-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.85730254G>A , CM000666.2:g.85730254G>A | GRCh38 |
| NC_000004.11:g.86651407G>A , CM000666.1:g.86651407G>A | GRCh37 |
| NC_000004.10:g.86870431G>A | NCBI36 |
| NG_051627.1:g.260124G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395184.6:c.268+8282G>A MANE Select | ENSP00000378611.1:n.268+8282G>A | |
| ENST00000395184.5:c.268+8282G>A | ENSP00000378611.1:n.268+8282G>A | |
| ENST00000503995.5:c.268+8282G>A | ENSP00000423206.1:n.268+8282G>A | |
| ENST00000512201.5:c.-18+8282G>A | ENSP00000426105.1:n.-18+8282G>A | |
| NM_001025616.2:c.268+8282G>A | NP_001020787.2:n.268+8282G>A | |
| XM_005263263.3:c.268+8282G>A | XP_005263320.1:n.268+8282G>A | |
| XM_024454238.1:c.-18+8282G>A | XP_024310006.1:n.-18+8282G>A | |
| XM_024454239.1:c.-18+8282G>A | XP_024310007.1:n.-18+8282G>A | |
| NM_001025616.3:c.268+8282G>A MANE Select | NP_001020787.2:n.268+8282G>A |