Linked Data
ClinVar Variation Id:
522329
ClinVar RCV Id:
RCV000625409
dbSNP Id:
rs1183879233
gnomAD v2:
10-16873308-T-C
gnomAD v3:
10-16831309-T-C
gnomAD v4:
10-16831309-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16831309T>C , CM000672.2:g.16831309T>C | GRCh38 |
| NC_000010.10:g.16873308T>C , CM000672.1:g.16873308T>C | GRCh37 |
| NC_000010.9:g.16913314T>C | NCBI36 |
| NG_008967.1:g.303509A>G , LRG_540:g.303509A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.10471A>G MANE Select | ENSP00000367064.4:p.Ser3491Gly | |
| ENST00000377833.8:c.10471A>G | ENSP00000367064.4:p.Ser3491Gly | |
| NM_001081.3:c.10471A>G , LRG_540t1:c.10471A>G | NP_001072.2:p.Ser3491Gly | |
| XM_011519709.1:c.6457A>G | XP_011518011.1:p.Ser2153Gly | |
| XM_011519710.1:c.6433A>G | XP_011518012.1:p.Ser2145Gly | |
| XM_011519711.1:c.6313A>G | XP_011518013.1:p.Ser2105Gly | |
| XM_011519709.2:c.6457A>G | XP_011518011.1:p.Ser2153Gly | |
| XM_011519710.2:c.6433A>G | XP_011518012.1:p.Ser2145Gly | |
| XM_011519711.3:c.6313A>G | XP_011518013.1:p.Ser2105Gly | |
| NM_001081.4:c.10471A>G MANE Select | NP_001072.2:p.Ser3491Gly |