Linked Data
ClinVar Variation Id:
707965
dbSNP Id:
rs142097786
ExAC:
18:21456271 G / T
gnomAD v2:
18-21456271-G-T
gnomAD v3:
18-23876307-G-T
gnomAD v4:
18-23876307-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23876307G>T , CM000680.2:g.23876307G>T | GRCh38 |
| NC_000018.9:g.21456271G>T , CM000680.1:g.21456271G>T | GRCh37 |
| NC_000018.8:g.19710269G>T | NCBI36 |
| NG_007853.2:g.191710G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269217.11:c.185G>T MANE Plus Clinical | ENSP00000269217.5:p.Gly62Val | |
| ENST00000313654.14:c.5012G>T MANE Select | ENSP00000324532.8:p.Gly1671Val | |
| ENST00000649721.1:c.1904G>T | ENSP00000497885.1:p.Gly635Val | |
| ENST00000269217.10:c.185G>T | ENSP00000269217.5:p.Gly62Val | |
| ENST00000313654.13:c.5012G>T | ENSP00000324532.8:p.Gly1671Val | |
| ENST00000399516.7:c.5012G>T | ENSP00000382432.2:p.Gly1671Val | |
| ENST00000587184.5:c.185G>T | ENSP00000466557.1:p.Gly62Val | |
| NM_000227.4:c.185G>T | NP_000218.3:p.Gly62Val | |
| NM_001127717.2:c.5012G>T | NP_001121189.2:p.Gly1671Val | |
| NM_001127718.2:c.185G>T | NP_001121190.2:p.Gly62Val | |
| NM_198129.2:c.5012G>T | NP_937762.2:p.Gly1671Val | |
| XM_011525978.1:c.5039G>T | XP_011524280.1:p.Gly1680Val | |
| XM_011525979.1:c.5030G>T | XP_011524281.1:p.Gly1677Val | |
| XM_011525980.1:c.5021G>T | XP_011524282.1:p.Gly1674Val | |
| XM_011525981.1:c.4907G>T | XP_011524283.1:p.Gly1636Val | |
| XM_011525982.1:c.5039G>T | XP_011524284.1:p.Gly1680Val | |
| XM_011525978.2:c.5039G>T | XP_011524280.1:p.Gly1680Val | |
| XM_011525979.2:c.5030G>T | XP_011524281.1:p.Gly1677Val | |
| XM_011525980.2:c.5021G>T | XP_011524282.1:p.Gly1674Val | |
| XM_011525981.2:c.4907G>T | XP_011524283.1:p.Gly1636Val | |
| XM_011525982.2:c.5039G>T | XP_011524284.1:p.Gly1680Val | |
| XM_017025743.1:c.2891G>T | XP_016881232.1:p.Gly964Val | |
| XM_017025744.1:c.581G>T | XP_016881233.1:p.Gly194Val | |
| XR_001753199.1:n.5280G>T | ||
| NM_000227.5:c.185G>T | NP_000218.3:p.Gly62Val | |
| NM_001127717.3:c.5012G>T | NP_001121189.2:p.Gly1671Val | |
| NM_001127718.3:c.185G>T | NP_001121190.2:p.Gly62Val | |
| NM_198129.3:c.5012G>T | NP_937762.2:p.Gly1671Val | |
| NM_000227.6:c.185G>T MANE Plus Clinical | NP_000218.3:p.Gly62Val | |
| NM_001127717.4:c.5012G>T | NP_001121189.2:p.Gly1671Val | |
| NM_001127718.4:c.185G>T | NP_001121190.2:p.Gly62Val | |
| NM_198129.4:c.5012G>T MANE Select | NP_937762.2:p.Gly1671Val |