Linked Data
dbSNP Id:
rs2059592464
gnomAD v3:
10-93758778-T-C
gnomAD v4:
10-93758778-T-C
MyVariant Identifiers:
chr10:g.95518535T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93758778T>C , CM000672.2:g.93758778T>C | GRCh38 |
| NC_000010.10:g.95518535T>C , CM000672.1:g.95518535T>C | GRCh37 |
| NC_000010.9:g.95508525T>C | NCBI36 |
| NG_011832.1:g.5970T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371418.9:c.234T>C MANE Select | ENSP00000360472.4:p.Gly78= | |
| ENST00000635953.1:c.234T>C | ENSP00000490058.1:p.Gly78= | |
| ENST00000636140.1:n.19T>C | ||
| ENST00000636155.1:c.234T>C | ENSP00000490355.1:p.Gly78= | |
| ENST00000636232.1:c.*20T>C | ENSP00000490325.1:n.*20T>C | |
| ENST00000636754.1:c.*24T>C | ENSP00000489781.1:n.*24T>C | |
| ENST00000636946.1:c.234T>C | ENSP00000490654.1:p.Gly78= | |
| ENST00000637037.1:c.234T>C | ENSP00000490860.1:p.Gly78= | |
| ENST00000637347.1:n.148+90T>C | ||
| ENST00000637611.1:c.234T>C | ENSP00000489682.1:p.Gly78= | |
| ENST00000637689.1:c.-1138T>C | ENSP00000490496.1:n.-1138T>C | |
| ENST00000637925.1:c.234T>C | ENSP00000489763.1:p.Gly78= | |
| ENST00000638049.1:c.151T>C | ENSP00000490597.1:p.Phe51Leu | |
| ENST00000371413.4:c.234T>C | ENSP00000360467.3:p.Gly78= | |
| ENST00000371418.8:c.234T>C | ENSP00000360472.4:p.Gly78= | |
| ENST00000478763.2:c.234T>C | ENSP00000486517.1:p.Gly78= | |
| ENST00000627420.2:c.*24T>C | ENSP00000487116.1:n.*24T>C | |
| ENST00000627699.1:c.*24T>C | ENSP00000485868.1:n.*24T>C | |
| ENST00000629035.2:c.215+419T>C | ENSP00000486908.1:n.215+419T>C | |
| ENST00000630047.2:c.234T>C | ENSP00000485917.1:p.Gly78= | |
| ENST00000630184.2:c.234T>C | ENSP00000486607.1:p.Gly78= | |
| ENST00000630487.2:c.*24T>C | ENSP00000486859.1:n.*24T>C | |
| NM_001308275.1:c.234T>C | NP_001295204.1:p.Gly78= | |
| NM_001308276.1:c.234T>C | NP_001295205.1:p.Gly78= | |
| NM_005097.2:c.234T>C | NP_005088.1:p.Gly78= | |
| NM_005097.3:c.234T>C | NP_005088.1:p.Gly78= | |
| NR_131777.1:n.579T>C | ||
| XM_017016911.2:c.234T>C | XP_016872400.1:p.Gly78= | |
| XM_017016912.2:c.234T>C | XP_016872401.1:p.Gly78= | |
| NM_005097.4:c.234T>C MANE Select | NP_005088.1:p.Gly78= | |
| NM_001308275.2:c.234T>C | NP_001295204.1:p.Gly78= | |
| NM_001308276.2:c.234T>C | NP_001295205.1:p.Gly78= | |
| NR_131777.2:n.452T>C |