Linked Data
ClinVar Variation Id:
568271
ClinVar RCV Id:
RCV000688573
dbSNP Id:
rs770349365
ExAC:
8:133584661 C / A
gnomAD v2:
8-133584661-C-A
gnomAD v4:
8-132572413-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132572413C>A , CM000670.2:g.132572413C>A | GRCh38 |
| NC_000008.10:g.133584661C>A , CM000670.1:g.133584661C>A | GRCh37 |
| NC_000008.9:g.133653843C>A | NCBI36 |
| NG_033068.1:g.108203G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620350.5:c.1294G>T MANE Select | ENSP00000484634.1:p.Val432Phe | |
| ENST00000250173.5:c.*158G>T | ENSP00000250173.2:n.*158G>T | |
| ENST00000518642.5:c.*158G>T | ENSP00000428610.1:n.*158G>T | |
| ENST00000519595.5:c.1294G>T | ENSP00000429791.1:p.Val432Phe | |
| ENST00000522789.5:c.514G>T | ENSP00000428015.1:p.Val172Phe | |
| ENST00000618342.1:c.1294G>T | ENSP00000484802.1:p.Val432Phe | |
| ENST00000620350.4:c.1294G>T | ENSP00000484634.1:p.Val432Phe | |
| NM_012472.4:c.1294G>T | NP_036604.2:p.Val432Phe | |
| NR_073525.1:n.1518G>T | ||
| XM_006716538.2:c.1312G>T | XP_006716601.2:p.Val438Phe | |
| XM_011516950.1:c.1252G>T | XP_011515252.1:p.Val418Phe | |
| XM_011516952.1:c.1048G>T | XP_011515254.1:p.Val350Phe | |
| XM_011516953.1:c.934G>T | XP_011515255.1:p.Val312Phe | |
| XM_011516954.1:c.934G>T | XP_011515256.1:p.Val312Phe | |
| XR_428377.2:n.1546G>T | ||
| NM_001321961.1:c.1234G>T | NP_001308890.1:p.Val412Phe | |
| NM_001321962.1:c.1048G>T | NP_001308891.1:p.Val350Phe | |
| NM_001321963.1:c.934G>T | NP_001308892.1:p.Val312Phe | |
| NM_001321964.1:c.934G>T | NP_001308893.1:p.Val312Phe | |
| NM_001321965.1:c.934G>T | NP_001308894.1:p.Val312Phe | |
| NM_001321966.1:c.874G>T | NP_001308895.1:p.Val292Phe | |
| NM_012472.5:c.1294G>T | NP_036604.2:p.Val432Phe | |
| NR_073525.2:n.1518G>T | ||
| NR_135905.1:n.1507G>T | ||
| NR_135906.1:n.948G>T | ||
| NR_135907.1:n.1194G>T | ||
| NR_135908.1:n.888G>T | ||
| NR_135909.1:n.1312G>T | ||
| NR_135910.1:n.1619G>T | ||
| NR_135911.1:n.1698G>T | ||
| NR_135912.1:n.2257G>T | ||
| NR_135913.1:n.1944G>T | ||
| XM_006716538.3:c.1312G>T | XP_006716601.2:p.Val438Phe | |
| XM_011516950.2:c.1252G>T | XP_011515252.1:p.Val418Phe | |
| XM_017013296.1:c.1192G>T | XP_016868785.1:p.Val398Phe | |
| XM_017013297.1:c.934G>T | XP_016868786.1:p.Val312Phe | |
| XM_017013298.1:c.934G>T | XP_016868787.1:p.Val312Phe | |
| NM_012472.6:c.1294G>T MANE Select | NP_036604.2:p.Val432Phe | |
| NM_001321961.2:c.1234G>T | NP_001308890.1:p.Val412Phe | |
| NM_001321962.2:c.1048G>T | NP_001308891.1:p.Val350Phe | |
| NM_001321963.2:c.934G>T | NP_001308892.1:p.Val312Phe | |
| NM_001321964.2:c.934G>T | NP_001308893.1:p.Val312Phe | |
| NM_001321965.2:c.934G>T | NP_001308894.1:p.Val312Phe | |
| NM_001321966.2:c.874G>T | NP_001308895.1:p.Val292Phe | |
| NR_073525.3:n.1446G>T | ||
| NR_135905.2:n.1435G>T | ||
| NR_135906.2:n.876G>T | ||
| NR_135907.2:n.1122G>T | ||
| NR_135908.2:n.816G>T | ||
| NR_135909.2:n.1332G>T | ||
| NR_135910.2:n.1682G>T | ||
| NR_135911.2:n.1802G>T | ||
| NR_135912.2:n.2361G>T | ||
| NR_135913.2:n.2048G>T |