Linked Data
dbSNP Id:
rs769483364
ExAC:
17:48263059 T / C
gnomAD v2:
17-48263059-T-C
gnomAD v4:
17-50185698-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185698T>C , CM000679.2:g.50185698T>C | GRCh38 |
| NC_000017.10:g.48263059T>C , CM000679.1:g.48263059T>C | GRCh37 |
| NC_000017.9:g.45618058T>C | NCBI36 |
| NG_007400.1:g.20942A>G , LRG_1:g.20942A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4249-50A>G MANE Select | ENSP00000225964.6:n.4249-50A>G | |
| ENST00000225964.9:c.4249-50A>G | ENSP00000225964.5:n.4249-50A>G | |
| NM_000088.3:c.4249-50A>G , LRG_1t1:c.4249-50A>G | NP_000079.2:n.4249-50A>G | |
| XM_005257058.3:c.3979-50A>G | XP_005257115.2:n.3979-50A>G | |
| XM_005257059.3:c.3331-50A>G | XP_005257116.2:n.3331-50A>G | |
| XM_011524341.1:c.4051-50A>G | XP_011522643.1:n.4051-50A>G | |
| XM_005257058.4:c.3979-50A>G | XP_005257115.2:n.3979-50A>G | |
| XM_005257059.4:c.3331-50A>G | XP_005257116.2:n.3331-50A>G | |
| NM_000088.4:c.4249-50A>G MANE Select | NP_000079.2:n.4249-50A>G |