Linked Data
ClinVar Variation Id:
1424767
ClinVar RCV Id:
RCV001924022
dbSNP Id:
rs72552733
gnomAD v2:
5-131728193-G-T
gnomAD v3:
5-132392501-G-T
gnomAD v4:
5-132392501-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132392501G>T , CM000667.2:g.132392501G>T | GRCh38 |
| NC_000005.9:g.131728193G>T , CM000667.1:g.131728193G>T | GRCh37 |
| NC_000005.8:g.131756092G>T | NCBI36 |
| NG_008982.1:g.27793G>T | |
| NG_008982.2:g.27798G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.1177G>T | ENSP00000388838.2:p.Val393Phe | |
| ENST00000435065.7:c.1408G>T | ENSP00000402760.2:p.Val470Phe | |
| ENST00000448810.6:c.*188G>T | ENSP00000401860.2:n.*188G>T | |
| ENST00000685543.1:n.1477G>T | ||
| ENST00000686757.1:c.*500G>T | ENSP00000510721.1:n.*500G>T | |
| ENST00000687740.1:n.4021G>T | ||
| ENST00000688151.1:n.2646G>T | ||
| ENST00000689271.1:c.1183G>T | ENSP00000510797.1:p.Val395Phe | |
| ENST00000690900.1:c.*500G>T | ENSP00000510703.1:n.*500G>T | |
| ENST00000692212.1:n.4476G>T | ||
| ENST00000692355.1:c.589G>T | ||
| ENST00000692413.1:c.1318G>T | ENSP00000509374.1:p.Val440Phe | |
| ENST00000692825.1:c.1404G>T | ENSP00000509447.1:n.1404G>T | |
| ENST00000693308.1:c.1384G>T | ENSP00000509770.1:p.Val462Phe | |
| ENST00000693763.1:n.2496G>T | ||
| ENST00000245407.8:c.1336G>T MANE Select | ENSP00000245407.3:p.Val446Phe | |
| ENST00000245407.7:c.1336G>T | ENSP00000245407.3:p.Val446Phe | |
| ENST00000435065.6:c.1408G>T | ENSP00000402760.2:p.Val470Phe | |
| ENST00000447841.5:c.180G>T | ||
| ENST00000448810.5:c.598G>T | ||
| ENST00000461013.5:n.8758G>T | ||
| ENST00000475308.1:n.2014G>T | ||
| ENST00000479605.5:n.439G>T | ||
| NM_001308122.1:c.1408G>T | NP_001295051.1:p.Val470Phe | |
| NM_003060.3:c.1336G>T | NP_003051.1:p.Val446Phe | |
| XM_011543590.1:c.718G>T | XP_011541892.1:p.Val240Phe | |
| XR_948290.1:n.1462G>T | ||
| XM_011543590.2:c.718G>T | XP_011541892.1:p.Val240Phe | |
| XM_017009778.2:c.808G>T | XP_016865267.1:p.Val270Phe | |
| XR_001742215.1:n.1591G>T | ||
| XR_001742216.1:n.1610G>T | ||
| XR_427718.2:n.1696G>T | ||
| XR_948290.2:n.1462G>T | ||
| XR_948291.2:n.1690G>T | ||
| NM_003060.4:c.1336G>T MANE Select | NP_003051.1:p.Val446Phe | |
| NM_001308122.2:c.1408G>T | NP_001295051.1:p.Val470Phe |