Linked Data
dbSNP Id:
rs778470643
ExAC:
5:56155536 A / G
gnomAD v2:
5-56155536-A-G
gnomAD v4:
5-56859709-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56859709A>G , CM000667.2:g.56859709A>G | GRCh38 |
| NC_000005.9:g.56155536A>G , CM000667.1:g.56155536A>G | GRCh37 |
| NC_000005.8:g.56191293A>G | NCBI36 |
| NG_031884.1:g.49637A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.634-6A>G MANE Select | ENSP00000382423.3:n.634-6A>G | |
| ENST00000399503.3:c.634-6A>G | ENSP00000382423.3:n.634-6A>G | |
| NM_005921.1:c.634-6A>G | NP_005912.1:n.634-6A>G | |
| XM_005248519.3:c.256-6A>G | XP_005248576.2:n.256-6A>G | |
| XM_011543406.1:c.379-6A>G | XP_011541708.1:n.379-6A>G | |
| XM_011543407.1:c.634-6A>G | XP_011541709.1:n.634-6A>G | |
| XM_011543408.1:c.634-6A>G | XP_011541710.1:n.634-6A>G | |
| XM_017009484.1:c.223-6A>G | XP_016864973.1:n.223-6A>G | |
| XM_017009485.1:c.145-6A>G | XP_016864974.1:n.145-6A>G | |
| XR_001742068.2:n.665-6A>G | ||
| NM_005921.2:c.634-6A>G MANE Select | NP_005912.1:n.634-6A>G |