Linked Data
ClinVar Variation Id:
956175
ClinVar RCV Id:
RCV001228930
dbSNP Id:
rs148758737
gnomAD v4:
16-31184986-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31184986G>A , CM000678.2:g.31184986G>A | GRCh38 |
| NC_000016.9:g.31196307G>A , CM000678.1:g.31196307G>A | GRCh37 |
| NC_000016.8:g.31103808G>A | NCBI36 |
| NG_012889.2:g.9855G>A , LRG_655:g.9855G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.571G>A MANE Select | ENSP00000254108.8:p.Gly191Ser | |
| ENST00000254108.11:c.571G>A | ENSP00000254108.7:p.Gly191Ser | |
| ENST00000380244.7:c.568G>A | ENSP00000369594.3:p.Gly190Ser | |
| ENST00000487509.6:n.636G>A | ||
| ENST00000566605.5:c.571G>A | ENSP00000455073.1:p.Gly191Ser | |
| ENST00000568685.1:c.571G>A | ENSP00000455282.1:p.Gly191Ser | |
| NM_001170634.1:c.568G>A | NP_001164105.1:p.Gly190Ser | |
| NM_001170937.1:c.559G>A | NP_001164408.1:p.Gly187Ser | |
| NM_004960.3:c.571G>A , LRG_655t1:c.571G>A | NP_004951.1:p.Gly191Ser | |
| NR_028388.2:n.676G>A | ||
| XM_005255233.3:c.-10G>A | XP_005255290.1:n.-10G>A | |
| XM_011545781.1:c.565G>A | XP_011544083.1:p.Gly189Ser | |
| XM_011545782.1:c.-10G>A | XP_011544084.1:n.-10G>A | |
| XM_005255233.5:c.-10G>A | XP_005255290.1:n.-10G>A | |
| XM_011545782.2:c.-10G>A | XP_011544084.1:n.-10G>A | |
| XM_024450221.1:c.562G>A | XP_024305989.1:p.Gly188Ser | |
| NM_004960.4:c.571G>A MANE Select | NP_004951.1:p.Gly191Ser |