Linked Data
ClinVar Variation Id:
653595
ClinVar RCV Id:
RCV000809390
dbSNP Id:
rs1196161699
gnomAD v3:
1-43338640-T-C
gnomAD v4:
1-43338640-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43338640T>C , CM000663.2:g.43338640T>C | GRCh38 |
| NC_000001.10:g.43804311T>C , CM000663.1:g.43804311T>C | GRCh37 |
| NC_000001.9:g.43576898T>C | NCBI36 |
| NG_007525.1:g.5837T>C , LRG_510:g.5837T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.311T>C MANE Select | ENSP00000361548.3:p.Phe104Ser | |
| ENST00000413998.7:c.290T>C | ENSP00000414004.3:p.Phe97Ser | |
| ENST00000638732.1:n.311T>C | ||
| ENST00000372470.7:c.311T>C | ENSP00000361548.3:p.Phe104Ser | |
| ENST00000413998.6:c.311T>C | ENSP00000414004.2:p.Phe104Ser | |
| ENST00000612993.1:c.311T>C | ENSP00000480273.1:p.Phe104Ser | |
| NM_005373.2:c.311T>C , LRG_510t1:c.311T>C | NP_005364.1:p.Phe104Ser | |
| XM_011541478.1:c.290T>C | XP_011539780.1:p.Phe97Ser | |
| XM_017001320.1:c.482T>C | XP_016856809.1:p.Phe161Ser | |
| NM_005373.3:c.311T>C MANE Select | NP_005364.1:p.Phe104Ser |