Linked Data
ClinVar Variation Id:
2808673
ClinVar RCV Id:
RCV003627785
dbSNP Id:
rs1397067517
gnomAD v2:
10-73579264-A-C
gnomAD v3:
10-71819507-A-C
gnomAD v4:
10-71819507-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71819507A>C , CM000672.2:g.71819507A>C | GRCh38 |
| NC_000010.10:g.73579264A>C , CM000672.1:g.73579264A>C | GRCh37 |
| NC_000010.9:g.73249270A>C | NCBI36 |
| NG_009301.1:g.36819T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.1308T>G MANE Select | ENSP00000378394.3:p.Leu436= | |
| ENST00000394934.4:c.1317T>G | ENSP00000378392.2:p.Leu439= | |
| ENST00000394936.7:c.1308T>G | ENSP00000378394.3:p.Leu436= | |
| ENST00000610929.3:c.456T>G | ENSP00000480857.1:p.Leu152= | |
| NM_001042465.1:c.1317T>G | NP_001035930.1:p.Leu439= | |
| NM_001042466.1:c.1314T>G | NP_001035931.1:p.Leu438= | |
| NM_002778.2:c.1308T>G | NP_002769.1:p.Leu436= | |
| NM_001042465.2:c.1317T>G | NP_001035930.1:p.Leu439= | |
| NM_001042466.2:c.1314T>G | NP_001035931.1:p.Leu438= | |
| NM_002778.3:c.1308T>G | NP_002769.1:p.Leu436= | |
| NM_002778.4:c.1308T>G MANE Select | NP_002769.1:p.Leu436= | |
| NM_001042465.3:c.1317T>G | NP_001035930.1:p.Leu439= | |
| NM_001042466.3:c.1314T>G | NP_001035931.1:p.Leu438= |