Linked Data
ClinVar Variation Id:
337267
dbSNP Id:
rs145056129
ExAC:
2:85780403 G / A
gnomAD v2:
2-85780403-G-A
gnomAD v3:
2-85553280-G-A
gnomAD v4:
2-85553280-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85553280G>A , CM000664.2:g.85553280G>A | GRCh38 |
| NC_000002.11:g.85780403G>A , CM000664.1:g.85780403G>A | GRCh37 |
| NC_000002.10:g.85633914G>A | NCBI36 |
| NG_011811.2:g.13255C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473665.2:n.5151C>T | ||
| ENST00000482662.2:n.3558C>T | ||
| ENST00000685865.1:n.1510C>T | ||
| ENST00000687250.1:n.1210C>T | ||
| ENST00000687995.1:n.1459C>T | ||
| ENST00000688205.1:c.*700C>T | ENSP00000509673.1:n.*700C>T | |
| ENST00000688788.1:n.1346C>T | ||
| ENST00000689276.1:c.1038C>T | ENSP00000510012.1:p.Leu346= | |
| ENST00000689576.1:c.1107C>T | ENSP00000508712.1:p.Leu369= | |
| ENST00000690108.1:c.*763C>T | ENSP00000510617.1:n.*763C>T | |
| ENST00000690468.1:c.828C>T | ENSP00000509078.1:p.Leu276= | |
| ENST00000690595.1:c.432C>T | ENSP00000508979.1:p.Leu144= | |
| ENST00000691348.1:c.936C>T | ENSP00000509369.1:p.Leu312= | |
| ENST00000691410.1:c.*684C>T | ENSP00000508479.1:n.*684C>T | |
| ENST00000693287.1:c.423C>T | ENSP00000510264.1:p.Leu141= | |
| ENST00000693681.1:c.420C>T | ENSP00000510789.1:p.Leu140= | |
| ENST00000233838.9:c.1107C>T MANE Select | ENSP00000233838.3:p.Leu369= | |
| ENST00000233838.8:c.1107C>T | ENSP00000233838.3:p.Leu369= | |
| ENST00000430215.7:c.936C>T | ENSP00000408045.3:p.Leu312= | |
| ENST00000465637.5:n.179-5276C>T | ||
| ENST00000473665.1:n.600C>T | ||
| ENST00000482662.1:n.524C>T | ||
| NM_000821.5:c.1107C>T | NP_000812.2:p.Leu369= | |
| NM_000821.6:c.1107C>T | NP_000812.2:p.Leu369= | |
| NM_001142269.2:c.936C>T | NP_001135741.1:p.Leu312= | |
| NM_001142269.3:c.936C>T | NP_001135741.1:p.Leu312= | |
| XM_005264259.3:c.1107C>T | XP_005264316.1:p.Leu369= | |
| XM_011532764.1:c.285C>T | XP_011531066.1:p.Leu95= | |
| XM_011532765.1:c.285C>T | XP_011531067.1:p.Leu95= | |
| XR_939677.1:n.1172C>T | ||
| XM_005264259.5:c.1107C>T | XP_005264316.1:p.Leu369= | |
| XM_011532764.3:c.285C>T | XP_011531066.1:p.Leu95= | |
| XM_011532765.3:c.285C>T | XP_011531067.1:p.Leu95= | |
| XM_017003803.2:c.936C>T | XP_016859292.1:p.Leu312= | |
| XR_001738703.2:n.1172C>T | ||
| NM_000821.7:c.1107C>T MANE Select | NP_000812.2:p.Leu369= | |
| NM_001142269.4:c.936C>T | NP_001135741.1:p.Leu312= |