Linked Data
ClinVar Variation Id:
979099
dbSNP Id:
rs746824357
ExAC:
3:30713510 T / C
gnomAD v2:
3-30713510-T-C
gnomAD v3:
3-30672018-T-C
gnomAD v4:
3-30672018-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30672018T>C , CM000665.2:g.30672018T>C | GRCh38 |
| NC_000003.11:g.30713510T>C , CM000665.1:g.30713510T>C | GRCh37 |
| NC_000003.10:g.30688514T>C | NCBI36 |
| NG_007490.1:g.70517T>C , LRG_779:g.70517T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.835T>C MANE Select | ENSP00000295754.5:p.Phe279Leu | |
| ENST00000672866.1:n.2431T>C | ||
| ENST00000295754.9:c.835T>C | ENSP00000295754.5:p.Phe279Leu | |
| ENST00000359013.4:c.910T>C | ENSP00000351905.4:p.Phe304Leu | |
| NM_001024847.2:c.910T>C , LRG_779t1:c.910T>C | NP_001020018.1:p.Phe304Leu | |
| NM_003242.5:c.835T>C | NP_003233.4:p.Phe279Leu | |
| XM_011534043.1:c.862T>C | XP_011532345.1:p.Phe288Leu | |
| XM_011534044.1:c.787T>C | XP_011532346.1:p.Phe263Leu | |
| XM_011534045.1:c.730T>C | XP_011532347.1:p.Phe244Leu | |
| XM_011534043.2:c.862T>C | XP_011532345.1:p.Phe288Leu | |
| XM_011534045.3:c.730T>C | XP_011532347.1:p.Phe244Leu | |
| XM_017007106.1:c.730T>C | XP_016862595.1:p.Phe244Leu | |
| NM_003242.6:c.835T>C MANE Select | NP_003233.4:p.Phe279Leu |