Linked Data
ClinVar Variation Id:
2936108
ClinVar RCV Id:
RCV003796394
gnomAD v4:
21-32631637-A-G
MyVariant Identifiers:
chr21:g.34003947A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.32631637A>G , CM000683.2:g.32631637A>G | GRCh38 |
| NC_000021.8:g.34003947A>G , CM000683.1:g.34003947A>G | GRCh37 |
| NC_000021.7:g.32925818A>G | NCBI36 |
| NG_030017.1:g.101405T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382499.7:c.4221T>C | ENSP00000371939.2:n.4221T>C | |
| ENST00000433931.7:c.4197T>C | ENSP00000409667.2:p.Ser1399= | |
| ENST00000630077.3:c.3939T>C | ENSP00000487560.1:p.Ser1313= | |
| ENST00000674204.1:c.*168T>C | ENSP00000501504.1:n.*168T>C | |
| ENST00000674308.1:c.4080T>C | ENSP00000501426.1:p.Ser1360= | |
| ENST00000674351.1:c.*168T>C MANE Select | ENSP00000501530.1:n.*168T>C | |
| ENST00000357345.7:c.*168T>C | ENSP00000349903.3:n.*168T>C | |
| ENST00000382491.7:c.*168T>C | ENSP00000371931.4:n.*168T>C | |
| ENST00000382499.6:c.4221T>C | ENSP00000371939.2:n.4221T>C | |
| ENST00000433931.6:c.4197T>C | ENSP00000409667.2:p.Ser1399= | |
| ENST00000438952.5:c.730T>C | ||
| ENST00000630077.2:c.3939T>C | ENSP00000487560.1:p.Ser1313= | |
| NM_001160302.1:c.*168T>C | NP_001153774.1:n.*168T>C | |
| NM_001160306.1:c.3939T>C | NP_001153778.1:p.Ser1313= | |
| NM_003895.3:c.4197T>C | NP_003886.3:p.Ser1399= | |
| NM_203446.2:c.4221T>C | NP_982271.2:n.4221T>C | |
| XM_017028494.1:c.4032T>C | XP_016883983.1:p.Ser1344= | |
| XM_017028495.2:c.4182T>C | XP_016883984.1:p.Ser1394= | |
| XM_017028496.1:c.3993T>C | XP_016883985.1:p.Ser1331= | |
| XM_017028497.2:c.4149T>C | XP_016883986.1:p.Ser1383= | |
| XM_017028498.1:c.3954T>C | XP_016883987.1:p.Ser1318= | |
| XM_017028499.2:c.4056T>C | XP_016883988.1:p.Ser1352= | |
| XM_017028500.1:c.*168T>C | XP_016883989.1:n.*168T>C | |
| XM_017028501.1:c.*168T>C | XP_016883990.1:n.*168T>C | |
| XM_017028502.1:c.*168T>C | XP_016883991.1:n.*168T>C | |
| XM_017028503.1:c.*168T>C | XP_016883992.1:n.*168T>C | |
| XM_017028504.1:c.*168T>C | XP_016883993.1:n.*168T>C | |
| XM_017028505.2:c.*168T>C | XP_016883994.1:n.*168T>C | |
| NM_001160306.2:c.3939T>C | NP_001153778.1:p.Ser1313= | |
| NM_203446.3:c.*168T>C MANE Select | NP_982271.3:n.*168T>C |