Linked Data
ClinVar Variation Id:
3758
ClinVar RCV Id:
RCV000003956
dbSNP Id:
rs121908016
ExAC:
10:127503603 C / A
gnomAD v2:
10-127503603-C-A
gnomAD v3:
10-125815034-C-A
gnomAD v4:
10-125815034-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125815034C>A , CM000672.2:g.125815034C>A | GRCh38 |
| NC_000010.10:g.127503603C>A , CM000672.1:g.127503603C>A | GRCh37 |
| NC_000010.9:g.127493593C>A | NCBI36 |
| NG_011557.1:g.13235G>T | |
| NG_011557.2:g.13235G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713579.1:c.244G>T | ENSP00000518871.1:p.Val82Phe | |
| ENST00000368797.10:c.244G>T MANE Select | ENSP00000357787.4:p.Val82Phe | |
| ENST00000648119.1:c.244G>T | ENSP00000497494.1:p.Val82Phe | |
| ENST00000648427.1:c.244G>T | ENSP00000497909.1:p.Val82Phe | |
| ENST00000649275.1:c.173G>T | ||
| ENST00000649450.1:n.281G>T | ||
| ENST00000649536.1:c.244G>T | ENSP00000497817.1:p.Val82Phe | |
| ENST00000650185.1:c.27G>T | ||
| ENST00000650524.1:c.49G>T | ENSP00000498108.1:p.Val17Phe | |
| ENST00000650587.1:c.244G>T | ENSP00000497366.1:p.Val82Phe | |
| ENST00000368774.1:c.244G>T | ENSP00000357763.1:p.Val82Phe | |
| ENST00000368778.7:c.244G>T | ENSP00000357767.3:p.Val82Phe | |
| ENST00000368786.5:c.244G>T | ENSP00000357775.1:p.Val82Phe | |
| ENST00000368797.8:c.244G>T | ENSP00000357787.4:p.Val82Phe | |
| ENST00000420761.5:c.160G>T | ENSP00000414833.1:p.Val54Phe | |
| NM_000375.2:c.244G>T | NP_000366.1:p.Val82Phe | |
| XM_005270137.2:c.244G>T | XP_005270194.1:p.Val82Phe | |
| XM_005270138.2:c.244G>T | XP_005270195.1:p.Val82Phe | |
| XM_005270139.2:c.244G>T | XP_005270196.1:p.Val82Phe | |
| XM_005270140.3:c.244G>T | XP_005270197.1:p.Val82Phe | |
| XM_005270141.1:c.244G>T | XP_005270198.1:p.Val82Phe | |
| XM_006717960.2:c.244G>T | XP_006718023.1:p.Val82Phe | |
| XM_011540126.1:c.244G>T | XP_011538428.1:p.Val82Phe | |
| XM_011540127.1:c.244G>T | XP_011538429.1:p.Val82Phe | |
| XR_246103.2:n.352G>T | ||
| XR_945809.1:n.352G>T | ||
| XR_945810.1:n.352G>T | ||
| NM_000375.3:c.244G>T MANE Select | NP_000366.1:p.Val82Phe | |
| NM_001324036.1:c.244G>T | NP_001310965.1:p.Val82Phe | |
| NM_001324037.1:c.244G>T | NP_001310966.1:p.Val82Phe | |
| NM_001324038.1:c.244G>T | NP_001310967.1:p.Val82Phe | |
| NM_001324039.1:c.244G>T | NP_001310968.1:p.Val82Phe | |
| NR_136675.1:n.329+1403G>T | ||
| NR_136676.1:n.510G>T | ||
| NR_136677.1:n.510G>T | ||
| NR_136678.1:n.241-2746G>T | ||
| XM_005270140.5:c.244G>T | XP_005270197.1:p.Val82Phe | |
| XM_011540127.2:c.244G>T | XP_011538429.1:p.Val82Phe | |
| XM_017016611.2:c.244G>T | XP_016872100.2:p.Val82Phe | |
| XM_017016612.2:c.244G>T | XP_016872101.1:p.Val82Phe | |
| XM_024448154.1:c.244G>T | XP_024303922.1:p.Val82Phe | |
| XM_024448155.1:c.244G>T | XP_024303923.1:p.Val82Phe | |
| XR_001747196.2:n.367G>T | ||
| XR_001747197.2:n.367G>T | ||
| XR_002957009.1:n.367G>T | ||
| XR_002957010.1:n.308G>T | ||
| XR_246103.3:n.367G>T | ||
| XR_945810.2:n.367G>T | ||
| NM_001324036.2:c.244G>T | NP_001310965.1:p.Val82Phe | |
| NM_001324037.2:c.244G>T | NP_001310966.1:p.Val82Phe | |
| NM_001324038.2:c.244G>T | NP_001310967.1:p.Val82Phe | |
| NR_136675.2:n.319+1403G>T | ||
| NR_136676.2:n.500G>T | ||
| NR_136678.2:n.231-2746G>T | ||
| NM_001324039.2:c.244G>T | NP_001310968.1:p.Val82Phe | |
| NR_136677.2:n.500G>T |