Linked Data
ClinVar Variation Id:
158060
dbSNP Id:
rs7702892
ExAC:
5:37115116 C / T
gnomAD v2:
5-37115116-C-T
gnomAD v3:
5-37115014-C-T
gnomAD v4:
5-37115014-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37115014C>T , CM000667.2:g.37115014C>T | GRCh38 |
| NC_000005.9:g.37115116C>T , CM000667.1:g.37115116C>T | GRCh37 |
| NC_000005.8:g.37150873C>T | NCBI36 |
| NG_032772.1:g.139415G>A | |
| NG_032772.2:g.139415G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651892.2:c.9346G>A MANE Select | ENSP00000498265.2:p.Gly3116Arg | |
| ENST00000676160.1:n.1852G>A | ||
| ENST00000425232.6:c.9184G>A | ENSP00000389014.2:p.Gly3062Arg | |
| ENST00000508244.5:c.9184G>A | ENSP00000421690.1:p.Gly3062Arg | |
| ENST00000509849.5:c.6358G>A | ENSP00000426337.1:n.6358G>A | |
| ENST00000514429.5:c.6382G>A | ENSP00000424223.1:p.Gly2128Arg | |
| NM_023073.3:c.9184G>A | NP_075561.3:p.Gly3062Arg | |
| XM_005248345.2:c.9346G>A | XP_005248402.1:p.Gly3116Arg | |
| XM_005248346.2:c.9343G>A | XP_005248403.1:p.Gly3115Arg | |
| XM_005248347.2:c.9343G>A | XP_005248404.1:p.Gly3115Arg | |
| XM_005248349.2:c.9235G>A | XP_005248406.1:p.Gly3079Arg | |
| XM_005248350.2:c.9217G>A | XP_005248407.1:p.Gly3073Arg | |
| XM_005248353.3:c.5989G>A | XP_005248410.1:p.Gly1997Arg | |
| XM_006714489.2:c.9346G>A | XP_006714552.1:p.Gly3116Arg | |
| XM_006714491.2:c.3919G>A | XP_006714554.1:p.Gly1307Arg | |
| XM_011514085.1:c.9346G>A | XP_011512387.1:p.Gly3116Arg | |
| XM_011514086.1:c.9346G>A | XP_011512388.1:p.Gly3116Arg | |
| XM_011514087.1:c.9292G>A | XP_011512389.1:p.Gly3098Arg | |
| XM_011514088.1:c.9238G>A | XP_011512390.1:p.Gly3080Arg | |
| XM_011514089.1:c.9346G>A | XP_011512391.1:p.Gly3116Arg | |
| XM_011514090.1:c.9028G>A | XP_011512392.1:p.Gly3010Arg | |
| XM_011514091.1:c.8674G>A | XP_011512393.1:p.Gly2892Arg | |
| XM_011514094.1:c.6571G>A | XP_011512396.1:p.Gly2191Arg | |
| XR_427661.2:n.9521G>A | ||
| XR_925644.1:n.9521G>A | ||
| XM_005248345.4:c.9346G>A | XP_005248402.1:p.Gly3116Arg | |
| XM_005248346.4:c.9343G>A | XP_005248403.1:p.Gly3115Arg | |
| XM_005248347.4:c.9343G>A | XP_005248404.1:p.Gly3115Arg | |
| XM_005248349.4:c.9235G>A | XP_005248406.1:p.Gly3079Arg | |
| XM_005248350.4:c.9217G>A | XP_005248407.1:p.Gly3073Arg | |
| XM_006714491.3:c.3919G>A | XP_006714554.1:p.Gly1307Arg | |
| XM_011514085.3:c.9346G>A | XP_011512387.1:p.Gly3116Arg | |
| XM_011514086.3:c.9346G>A | XP_011512388.1:p.Gly3116Arg | |
| XM_011514087.2:c.9292G>A | XP_011512389.1:p.Gly3098Arg | |
| XM_011514088.2:c.9238G>A | XP_011512390.1:p.Gly3080Arg | |
| XM_011514089.2:c.9346G>A | XP_011512391.1:p.Gly3116Arg | |
| XM_011514090.3:c.9028G>A | XP_011512392.1:p.Gly3010Arg | |
| XM_011514094.2:c.6571G>A | XP_011512396.1:p.Gly2191Arg | |
| XM_017009760.1:c.9157G>A | XP_016865249.1:p.Gly3053Arg | |
| XM_017009761.2:c.9157G>A | XP_016865250.1:p.Gly3053Arg | |
| XM_017009763.1:c.8353G>A | XP_016865252.1:p.Gly2785Arg | |
| XM_017009765.1:c.8158G>A | XP_016865254.1:p.Gly2720Arg | |
| XM_017009766.1:c.5989G>A | XP_016865255.1:p.Gly1997Arg | |
| XM_024446183.1:c.9157G>A | XP_024301951.1:p.Gly3053Arg | |
| XM_024446184.1:c.9028G>A | XP_024301952.1:p.Gly3010Arg | |
| XM_024446185.1:c.8674G>A | XP_024301953.1:p.Gly2892Arg | |
| XM_024446186.1:c.8353G>A | XP_024301954.1:p.Gly2785Arg | |
| XR_925644.2:n.9570G>A | ||
| NM_001384732.1:c.9346G>A MANE Select | NP_001371661.1:p.Gly3116Arg | |
| NM_023073.4:c.9184G>A | NP_075561.3:p.Gly3062Arg |