Linked Data
dbSNP Id:
rs1382053306
gnomAD v2:
17-48262906-T-C
gnomAD v3:
17-50185545-T-C
gnomAD v4:
17-50185545-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185545T>C , CM000679.2:g.50185545T>C | GRCh38 |
| NC_000017.10:g.48262906T>C , CM000679.1:g.48262906T>C | GRCh37 |
| NC_000017.9:g.45617905T>C | NCBI36 |
| NG_007400.1:g.21095A>G , LRG_1:g.21095A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4352A>G MANE Select | ENSP00000225964.6:p.Asp1451Gly | |
| ENST00000225964.9:c.4352A>G | ENSP00000225964.5:p.Asp1451Gly | |
| NM_000088.3:c.4352A>G , LRG_1t1:c.4352A>G | NP_000079.2:p.Asp1451Gly | |
| XM_005257058.3:c.4082A>G | XP_005257115.2:p.Asp1361Gly | |
| XM_005257059.3:c.3434A>G | XP_005257116.2:p.Asp1145Gly | |
| XM_011524341.1:c.4154A>G | XP_011522643.1:p.Asp1385Gly | |
| XM_005257058.4:c.4082A>G | XP_005257115.2:p.Asp1361Gly | |
| XM_005257059.4:c.3434A>G | XP_005257116.2:p.Asp1145Gly | |
| NM_000088.4:c.4352A>G MANE Select | NP_000079.2:p.Asp1451Gly |