Linked Data
dbSNP Id:
rs768676017
ExAC:
1:168014460 T / C
gnomAD v2:
1-168014460-T-C
gnomAD v4:
1-168045222-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168045222T>C , CM000663.2:g.168045222T>C | GRCh38 |
| NC_000001.10:g.168014460T>C , CM000663.1:g.168014460T>C | GRCh37 |
| NC_000001.9:g.166281084T>C | NCBI36 |
| NG_053062.1:g.113984T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367840.4:c.2253T>C MANE Select | ENSP00000356814.3:p.Gly751= | |
| ENST00000312263.10:c.2022T>C | ENSP00000311949.6:p.Gly674= | |
| ENST00000367840.3:c.2253T>C | ENSP00000356814.3:p.Gly751= | |
| ENST00000367843.7:c.2082T>C | ENSP00000356817.3:p.Gly694= | |
| ENST00000432587.6:c.2160T>C | ENSP00000396238.2:p.Gly720= | |
| ENST00000478668.1:n.142T>C | ||
| ENST00000489398.1:n.821T>C | ||
| NM_001017977.2:c.2022T>C | NP_001017977.1:p.Gly674= | |
| NM_001198956.1:c.2253T>C | NP_001185885.1:p.Gly751= | |
| NM_001198957.1:c.2160T>C | NP_001185886.1:p.Gly720= | |
| NM_018442.3:c.2082T>C | NP_060912.2:p.Gly694= | |
| XM_005245331.3:c.2253T>C | XP_005245388.1:p.Gly751= | |
| XM_005245332.3:c.2082T>C | XP_005245389.1:p.Gly694= | |
| XM_005245333.3:c.2022T>C | XP_005245390.1:p.Gly674= | |
| XM_011509767.1:c.1812T>C | XP_011508069.1:p.Gly604= | |
| XR_921892.1:n.2346T>C | ||
| XR_921893.1:n.2175T>C | ||
| NM_001349773.1:c.2253T>C | NP_001336702.1:p.Gly751= | |
| NM_001349774.1:c.1641T>C | NP_001336703.1:p.Gly547= | |
| NM_001349775.1:c.1641T>C | NP_001336704.1:p.Gly547= | |
| NM_001349776.1:c.1641T>C | NP_001336705.1:p.Gly547= | |
| NM_001349777.1:c.1641T>C | NP_001336706.1:p.Gly547= | |
| NM_001349778.1:c.1581T>C | NP_001336707.1:p.Gly527= | |
| NM_001349779.1:c.1581T>C | NP_001336708.1:p.Gly527= | |
| NM_001349780.1:c.1581T>C | NP_001336709.1:p.Gly527= | |
| NR_146228.1:n.1941T>C | ||
| NR_146229.1:n.2558T>C | ||
| NR_146230.1:n.2257T>C | ||
| XM_005245332.5:c.2082T>C | XP_005245389.1:p.Gly694= | |
| XM_005245333.5:c.2022T>C | XP_005245390.1:p.Gly674= | |
| XM_017001779.2:c.1812T>C | XP_016857268.1:p.Gly604= | |
| XM_024448371.1:c.1812T>C | XP_024304139.1:p.Gly604= | |
| XM_024448372.1:c.1641T>C | XP_024304140.1:p.Gly547= | |
| XM_024448373.1:c.1581T>C | XP_024304141.1:p.Gly527= | |
| XM_024448374.1:c.1581T>C | XP_024304142.1:p.Gly527= | |
| XM_024448375.1:c.1581T>C | XP_024304143.1:p.Gly527= | |
| NM_001017977.3:c.2022T>C | NP_001017977.1:p.Gly674= | |
| NM_001198956.2:c.2253T>C MANE Select | NP_001185885.1:p.Gly751= | |
| NM_001198957.2:c.2160T>C | NP_001185886.1:p.Gly720= | |
| NM_001349773.2:c.2253T>C | NP_001336702.1:p.Gly751= | |
| NM_001349774.2:c.1641T>C | NP_001336703.1:p.Gly547= | |
| NM_001349775.2:c.1641T>C | NP_001336704.1:p.Gly547= | |
| NM_001349776.2:c.1641T>C | NP_001336705.1:p.Gly547= | |
| NM_001349777.2:c.1641T>C | NP_001336706.1:p.Gly547= | |
| NM_001349778.2:c.1581T>C | NP_001336707.1:p.Gly527= | |
| NM_001349779.2:c.1581T>C | NP_001336708.1:p.Gly527= | |
| NM_001349780.2:c.1581T>C | NP_001336709.1:p.Gly527= | |
| NM_001393650.1:c.2022T>C | NP_001380579.1:p.Gly674= | |
| NM_001393651.1:c.2082T>C | NP_001380580.1:p.Gly694= | |
| NM_018442.4:c.2082T>C | NP_060912.2:p.Gly694= | |
| NR_146228.2:n.1817T>C | ||
| NR_146229.2:n.2434T>C | ||
| NR_146230.2:n.2133T>C |