Linked Data
ClinVar Variation Id:
936017
ClinVar RCV Id:
RCV001204728
dbSNP Id:
rs770343325
ExAC:
20:32883316 A / G
gnomAD v4:
20-34295510-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34295510A>G , CM000682.2:g.34295510A>G | GRCh38 |
| NC_000020.10:g.32883316A>G , CM000682.1:g.32883316A>G | GRCh37 |
| NC_000020.9:g.32346977A>G | NCBI36 |
| NG_012630.1:g.21293T>C | |
| NG_012630.2:g.21293T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217426.7:c.104T>C MANE Select | ENSP00000217426.2:p.Met35Thr | |
| ENST00000217426.6:c.104T>C | ENSP00000217426.2:p.Met35Thr | |
| ENST00000468908.1:n.267T>C | ||
| ENST00000473516.1:n.407T>C | ||
| ENST00000480653.5:n.151T>C | ||
| ENST00000538132.1:c.20T>C | ENSP00000442820.1:p.Met7Thr | |
| ENST00000606061.1:n.191T>C | ||
| NM_000687.2:c.104T>C | NP_000678.1:p.Met35Thr | |
| NM_001161766.1:c.20T>C | NP_001155238.1:p.Met7Thr | |
| XM_005260316.3:c.20T>C | XP_005260373.1:p.Met7Thr | |
| XM_005260317.1:c.20T>C | XP_005260374.1:p.Met7Thr | |
| XM_011528656.1:c.20T>C | XP_011526958.1:p.Met7Thr | |
| XM_011528657.1:c.20T>C | XP_011526959.1:p.Met7Thr | |
| XM_011528658.1:c.20T>C | XP_011526960.1:p.Met7Thr | |
| XM_011528659.1:c.20T>C | XP_011526961.1:p.Met7Thr | |
| XM_011528660.1:c.20T>C | XP_011526962.1:p.Met7Thr | |
| NM_000687.3:c.104T>C | NP_000678.1:p.Met35Thr | |
| NM_001322084.1:c.20T>C | NP_001309013.1:p.Met7Thr | |
| NM_001322085.1:c.20T>C | NP_001309014.1:p.Met7Thr | |
| NM_001322086.1:c.110T>C | NP_001309015.1:p.Met37Thr | |
| NM_001362750.1:c.104T>C | NP_001349679.1:p.Met35Thr | |
| XM_005260317.2:c.20T>C | XP_005260374.1:p.Met7Thr | |
| XM_011528656.3:c.110T>C | XP_011526958.2:p.Met37Thr | |
| XM_011528657.2:c.110T>C | XP_011526959.2:p.Met37Thr | |
| XM_011528658.3:c.110T>C | XP_011526960.2:p.Met37Thr | |
| XM_017027709.2:c.104T>C | XP_016883198.1:p.Met35Thr | |
| XM_017027710.2:c.-321T>C | XP_016883199.1:n.-321T>C | |
| NM_000687.4:c.104T>C MANE Select | NP_000678.1:p.Met35Thr | |
| NM_001322084.2:c.20T>C | NP_001309013.1:p.Met7Thr | |
| NM_001322085.2:c.20T>C | NP_001309014.1:p.Met7Thr | |
| NM_001322086.2:c.110T>C | NP_001309015.1:p.Met37Thr | |
| NM_001362750.2:c.104T>C | NP_001349679.1:p.Met35Thr | |
| NM_001161766.2:c.20T>C | NP_001155238.1:p.Met7Thr |