Linked Data
dbSNP Id:
rs1318654289
gnomAD v2:
3-30713511-T-C
gnomAD v3:
3-30672019-T-C
gnomAD v4:
3-30672019-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30672019T>C , CM000665.2:g.30672019T>C | GRCh38 |
| NC_000003.11:g.30713511T>C , CM000665.1:g.30713511T>C | GRCh37 |
| NC_000003.10:g.30688515T>C | NCBI36 |
| NG_007490.1:g.70518T>C , LRG_779:g.70518T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.836T>C MANE Select | ENSP00000295754.5:p.Phe279Ser | |
| ENST00000672866.1:n.2432T>C | ||
| ENST00000295754.9:c.836T>C | ENSP00000295754.5:p.Phe279Ser | |
| ENST00000359013.4:c.911T>C | ENSP00000351905.4:p.Phe304Ser | |
| NM_001024847.2:c.911T>C , LRG_779t1:c.911T>C | NP_001020018.1:p.Phe304Ser | |
| NM_003242.5:c.836T>C | NP_003233.4:p.Phe279Ser | |
| XM_011534043.1:c.863T>C | XP_011532345.1:p.Phe288Ser | |
| XM_011534044.1:c.788T>C | XP_011532346.1:p.Phe263Ser | |
| XM_011534045.1:c.731T>C | XP_011532347.1:p.Phe244Ser | |
| XM_011534043.2:c.863T>C | XP_011532345.1:p.Phe288Ser | |
| XM_011534045.3:c.731T>C | XP_011532347.1:p.Phe244Ser | |
| XM_017007106.1:c.731T>C | XP_016862595.1:p.Phe244Ser | |
| NM_003242.6:c.836T>C MANE Select | NP_003233.4:p.Phe279Ser |