Linked Data
ClinVar Variation Id:
1610138
ClinVar RCV Id:
RCV002152957
dbSNP Id:
rs201202318
ExAC:
17:27061921 C / T
gnomAD v2:
17-27061921-C-T
gnomAD v3:
17-28734903-C-T
gnomAD v4:
17-28734903-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28734903C>T , CM000679.2:g.28734903C>T | GRCh38 |
| NC_000017.10:g.27061921C>T , CM000679.1:g.27061921C>T | GRCh37 |
| NC_000017.9:g.24086048C>T | NCBI36 |
| NG_012263.1:g.11090C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268766.11:c.385C>T MANE Select | ENSP00000268766.6:p.Leu129Phe | |
| ENST00000268766.10:c.385C>T | ENSP00000268766.6:p.Leu129Phe | |
| ENST00000543014.1:c.385C>T | ENSP00000465859.1:p.Leu129Phe | |
| ENST00000579060.5:c.268C>T | ENSP00000466896.1:p.Leu90Phe | |
| ENST00000579671.5:c.268C>T | ENSP00000467335.1:p.Leu90Phe | |
| ENST00000584342.5:n.422C>T | ||
| ENST00000593261.1:n.383C>T | ||
| NM_178170.2:c.385C>T | NP_835464.1:p.Leu129Phe | |
| XM_011524638.1:c.457C>T | XP_011522940.1:p.Leu153Phe | |
| XM_011524639.1:c.385C>T | XP_011522941.1:p.Leu129Phe | |
| XM_011524640.1:c.457C>T | XP_011522942.1:p.Leu153Phe | |
| XM_011524641.1:c.268C>T | XP_011522943.1:p.Leu90Phe | |
| XM_011524642.1:c.268C>T | XP_011522944.1:p.Leu90Phe | |
| XM_011524643.1:c.268C>T | XP_011522945.1:p.Leu90Phe | |
| XM_011524644.1:c.141C>T | XP_011522946.1:p.Thr47= | |
| XM_011524645.1:c.457C>T | XP_011522947.1:p.Leu153Phe | |
| XR_934448.1:n.589C>T | ||
| NM_178170.3:c.385C>T MANE Select | NP_835464.1:p.Leu129Phe | |
| XM_011524638.3:c.457C>T | XP_011522940.1:p.Leu153Phe | |
| XM_011524640.3:c.457C>T | XP_011522942.1:p.Leu153Phe | |
| XM_017024499.2:c.385C>T | XP_016879988.1:p.Leu129Phe | |
| XM_017024500.2:c.268C>T | XP_016879989.1:p.Leu90Phe | |
| XM_017024501.1:c.457C>T | XP_016879990.1:p.Leu153Phe | |
| XR_001752497.2:n.589C>T |