Linked Data
ClinVar Variation Id:
13673
dbSNP Id:
rs121918010
ExAC:
1:21900274 T / C
gnomAD v2:
1-21900274-T-C
gnomAD v3:
1-21573781-T-C
gnomAD v4:
1-21573781-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21573781T>C , CM000663.2:g.21573781T>C | GRCh38 |
| NC_000001.10:g.21900274T>C , CM000663.1:g.21900274T>C | GRCh37 |
| NC_000001.9:g.21772861T>C | NCBI36 |
| NG_008940.1:g.69417T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374840.8:c.979T>C MANE Select | ENSP00000363973.3:p.Phe327Leu | |
| ENST00000374830.2:c.73-1952T>C | ||
| ENST00000374832.5:c.979T>C | ENSP00000363965.1:p.Phe327Leu | |
| ENST00000374840.7:c.979T>C | ENSP00000363973.3:p.Phe327Leu | |
| ENST00000539907.5:c.748T>C | ENSP00000437674.1:p.Phe250Leu | |
| ENST00000540617.5:c.814T>C | ENSP00000442672.1:p.Phe272Leu | |
| NM_000478.4:c.979T>C | NP_000469.3:p.Phe327Leu | |
| NM_001127501.2:c.814T>C | NP_001120973.2:p.Phe272Leu | |
| NM_001177520.1:c.748T>C | NP_001170991.1:p.Phe250Leu | |
| XM_005245818.1:c.979T>C | XP_005245875.1:p.Phe327Leu | |
| XM_005245820.2:c.979T>C | XP_005245877.1:p.Phe327Leu | |
| XM_006710546.1:c.979T>C | XP_006710609.1:p.Phe327Leu | |
| NM_000478.5:c.979T>C | NP_000469.3:p.Phe327Leu | |
| NM_001127501.3:c.814T>C | NP_001120973.2:p.Phe272Leu | |
| NM_001177520.2:c.748T>C | NP_001170991.1:p.Phe250Leu | |
| XM_006710546.3:c.979T>C | XP_006710609.1:p.Phe327Leu | |
| XM_017000903.1:c.823T>C | XP_016856392.1:p.Phe275Leu | |
| NM_000478.6:c.979T>C MANE Select | NP_000469.3:p.Phe327Leu | |
| NM_001127501.4:c.814T>C | NP_001120973.2:p.Phe272Leu | |
| NM_001177520.3:c.748T>C | NP_001170991.1:p.Phe250Leu | |
| NM_001369803.2:c.979T>C | NP_001356732.1:p.Phe327Leu | |
| NM_001369804.2:c.979T>C | NP_001356733.1:p.Phe327Leu | |
| NM_001369805.2:c.979T>C | NP_001356734.1:p.Phe327Leu |