Linked Data
ClinVar Variation Id:
4164
dbSNP Id:
rs77200626
ExAC:
21:19685292 G / C
gnomAD v2:
21-19685292-G-C
gnomAD v3:
21-18312975-G-C
gnomAD v4:
21-18312975-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.18312975G>C , CM000683.2:g.18312975G>C | GRCh38 |
| NC_000021.8:g.19685292G>C , CM000683.1:g.19685292G>C | GRCh37 |
| NC_000021.7:g.18607163G>C | NCBI36 |
| NG_012207.1:g.95679C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000284885.8:c.2135C>G MANE Select | ENSP00000284885.3:p.Ser712Ter | |
| ENST00000284885.7:c.2135C>G | ENSP00000284885.3:p.Ser712Ter | |
| NM_002772.2:c.2135C>G | NP_002763.2:p.Ser712Ter | |
| XM_011529654.1:c.2270C>G | XP_011527956.1:p.Ser757Ter | |
| XM_011529655.1:c.2270C>G | XP_011527957.1:p.Ser757Ter | |
| XM_011529656.1:c.2270C>G | XP_011527958.1:p.Ser757Ter | |
| XM_011529657.1:c.2225C>G | XP_011527959.1:p.Ser742Ter | |
| XM_011529658.1:c.2189C>G | XP_011527960.1:p.Ser730Ter | |
| XM_011529659.1:c.2180C>G | XP_011527961.1:p.Ser727Ter | |
| XM_011529654.2:c.2270C>G | XP_011527956.1:p.Ser757Ter | |
| XM_011529656.2:c.2270C>G | XP_011527958.1:p.Ser757Ter | |
| XM_011529657.2:c.2225C>G | XP_011527959.1:p.Ser742Ter | |
| XM_011529658.2:c.2189C>G | XP_011527960.1:p.Ser730Ter | |
| NM_002772.3:c.2135C>G MANE Select | NP_002763.3:p.Ser712Ter |