Linked Data
ClinVar Variation Id:
454453
ClinVar RCV Id:
RCV000550232
dbSNP Id:
rs374142554
ExAC:
18:3086106 T / C
gnomAD v2:
18-3086106-T-C
gnomAD v3:
18-3086108-T-C
gnomAD v4:
18-3086108-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.3086108T>C , CM000680.2:g.3086108T>C | GRCh38 |
| NC_000018.9:g.3086106T>C , CM000680.1:g.3086106T>C | GRCh37 |
| NC_000018.8:g.3076106T>C | NCBI36 |
| NG_032120.1:g.139001A>G , LRG_426:g.139001A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356443.9:c.4181A>G MANE Select | ENSP00000348821.4:p.Asp1394Gly | |
| ENST00000261606.11:c.3893A>G | ENSP00000261606.7:p.Asp1298Gly | |
| ENST00000356443.8:c.4181A>G | ENSP00000348821.4:p.Asp1394Gly | |
| ENST00000400569.7:c.3482A>G | ENSP00000383413.4:p.Asp1161Gly | |
| ENST00000581075.1:c.281A>G | ENSP00000462039.1:p.Asp94Gly | |
| NM_003803.3:c.4181A>G , LRG_426t1:c.4181A>G | NP_003794.3:p.Asp1394Gly | |
| NM_019856.1:c.3893A>G | NP_062830.1:p.Asp1298Gly | |
| XM_017026062.1:c.4145A>G | XP_016881551.1:p.Asp1382Gly | |
| XM_024451281.1:c.4280A>G | XP_024307049.1:p.Asp1427Gly | |
| NM_003803.4:c.4181A>G MANE Select | NP_003794.3:p.Asp1394Gly | |
| NM_019856.2:c.3893A>G | NP_062830.1:p.Asp1298Gly |