Linked Data
ClinVar Variation Id:
383585
dbSNP Id:
rs138085418
ExAC:
9:37783955 A / G
gnomAD v2:
9-37783955-A-G
gnomAD v3:
9-37783958-A-G
gnomAD v4:
9-37783958-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37783958A>G , CM000671.2:g.37783958A>G | GRCh38 |
| NC_000009.11:g.37783955A>G , CM000671.1:g.37783955A>G | GRCh37 |
| NC_000009.10:g.37773955A>G | NCBI36 |
| NG_032780.1:g.6135T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327304.10:c.430T>C MANE Select | ENSP00000323046.4:p.Leu144= | |
| ENST00000465860.6:n.131T>C | ||
| ENST00000678095.1:c.36T>C | ENSP00000503205.1:p.Thr12= | |
| ENST00000678588.1:n.1107T>C | ||
| ENST00000679059.1:c.430T>C | ENSP00000503947.1:p.Leu144= | |
| ENST00000327304.9:c.430T>C | ENSP00000323046.4:p.Leu144= | |
| ENST00000396521.3:c.430T>C | ENSP00000379775.3:p.Leu144= | |
| ENST00000465229.5:c.430T>C | ENSP00000418422.1:p.Leu144= | |
| ENST00000465860.5:n.131T>C | ||
| ENST00000482614.5:n.191T>C | ||
| ENST00000489414.5:n.149T>C | ||
| ENST00000490516.5:n.436T>C | ||
| ENST00000496910.1:n.131T>C | ||
| ENST00000540557.1:c.*866T>C | ENSP00000457548.1:n.*866T>C | |
| NM_001002269.2:c.430T>C | NP_001002269.1:p.Leu144= | |
| NM_016042.3:c.430T>C | NP_057126.2:p.Leu144= | |
| NM_016042.4:c.430T>C MANE Select | NP_057126.2:p.Leu144= |