Linked Data
dbSNP Id:
rs768656689
ExAC:
2:85780182 G / A
gnomAD v2:
2-85780182-G-A
gnomAD v4:
2-85553059-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85553059G>A , CM000664.2:g.85553059G>A | GRCh38 |
| NC_000002.11:g.85780182G>A , CM000664.1:g.85780182G>A | GRCh37 |
| NC_000002.10:g.85633693G>A | NCBI36 |
| NG_011811.2:g.13476C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473665.2:n.5211C>T | ||
| ENST00000482662.2:n.3618C>T | ||
| ENST00000685865.1:n.1570C>T | ||
| ENST00000687250.1:n.1270C>T | ||
| ENST00000687995.1:n.1519C>T | ||
| ENST00000688205.1:c.*760C>T | ENSP00000509673.1:n.*760C>T | |
| ENST00000688788.1:n.1406C>T | ||
| ENST00000689276.1:c.1098C>T | ENSP00000510012.1:p.Asn366= | |
| ENST00000689576.1:c.1167C>T | ENSP00000508712.1:p.Asn389= | |
| ENST00000690108.1:c.*823C>T | ENSP00000510617.1:n.*823C>T | |
| ENST00000690468.1:c.888C>T | ENSP00000509078.1:p.Asn296= | |
| ENST00000690595.1:c.492C>T | ENSP00000508979.1:p.Asn164= | |
| ENST00000691348.1:c.996C>T | ENSP00000509369.1:p.Asn332= | |
| ENST00000691410.1:c.*744C>T | ENSP00000508479.1:n.*744C>T | |
| ENST00000693287.1:c.483C>T | ENSP00000510264.1:p.Asn161= | |
| ENST00000693681.1:c.480C>T | ENSP00000510789.1:p.Asn160= | |
| ENST00000233838.9:c.1167C>T MANE Select | ENSP00000233838.3:p.Asn389= | |
| ENST00000233838.8:c.1167C>T | ENSP00000233838.3:p.Asn389= | |
| ENST00000430215.7:c.996C>T | ENSP00000408045.3:p.Asn332= | |
| ENST00000465637.5:n.179-5055C>T | ||
| ENST00000473665.1:n.660C>T | ||
| ENST00000482662.1:n.584C>T | ||
| NM_000821.5:c.1167C>T | NP_000812.2:p.Asn389= | |
| NM_000821.6:c.1167C>T | NP_000812.2:p.Asn389= | |
| NM_001142269.2:c.996C>T | NP_001135741.1:p.Asn332= | |
| NM_001142269.3:c.996C>T | NP_001135741.1:p.Asn332= | |
| XM_005264259.3:c.1167C>T | XP_005264316.1:p.Asn389= | |
| XM_011532764.1:c.345C>T | XP_011531066.1:p.Asn115= | |
| XM_011532765.1:c.345C>T | XP_011531067.1:p.Asn115= | |
| XR_939677.1:n.1232C>T | ||
| XM_005264259.5:c.1167C>T | XP_005264316.1:p.Asn389= | |
| XM_011532764.3:c.345C>T | XP_011531066.1:p.Asn115= | |
| XM_011532765.3:c.345C>T | XP_011531067.1:p.Asn115= | |
| XM_017003803.2:c.996C>T | XP_016859292.1:p.Asn332= | |
| XR_001738703.2:n.1232C>T | ||
| NM_000821.7:c.1167C>T MANE Select | NP_000812.2:p.Asn389= | |
| NM_001142269.4:c.996C>T | NP_001135741.1:p.Asn332= |