Linked Data
dbSNP Id:
rs10948363
gnomAD v2:
6-47487762-A-G
gnomAD v3:
6-47520026-A-G
gnomAD v4:
6-47520026-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.47520026A>G , CM000668.2:g.47520026A>G | GRCh38 |
| NC_000006.11:g.47487762A>G , CM000668.1:g.47487762A>G | GRCh37 |
| NC_000006.10:g.47595721A>G | NCBI36 |
| NG_008878.1:g.47238A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359314.5:c.166-13576A>G MANE Select | ENSP00000352264.5:n.166-13576A>G | |
| NM_012120.2:c.166-13576A>G | NP_036252.1:n.166-13576A>G | |
| XM_005248976.1:c.166-13576A>G | XP_005249033.1:n.166-13576A>G | |
| XM_005248977.2:c.166-13576A>G | XP_005249034.1:n.166-13576A>G | |
| XM_017010641.1:c.166-13576A>G | XP_016866130.1:n.166-13576A>G | |
| NM_012120.3:c.166-13576A>G MANE Select | NP_036252.1:n.166-13576A>G |