Linked Data
ClinVar Variation Id:
46000
dbSNP Id:
rs183431253
ExAC:
10:73550170 G / A
gnomAD v2:
10-73550170-G-A
gnomAD v3:
10-71790413-G-A
gnomAD v4:
10-71790413-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71790413G>A , CM000672.2:g.71790413G>A | GRCh38 |
| NC_000010.10:g.73550170G>A , CM000672.1:g.73550170G>A | GRCh37 |
| NC_000010.9:g.73220176G>A | NCBI36 |
| NG_008835.1:g.398467G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224721.12:c.6049G>A MANE Select | ENSP00000224721.9:p.Gly2017Ser | |
| ENST00000224721.10:c.6064G>A | ENSP00000224721.8:p.Gly2022Ser | |
| ENST00000622827.4:c.6049G>A | ENSP00000483211.1:p.Gly2017Ser | |
| NM_022124.5:c.6049G>A | NP_071407.4:p.Gly2017Ser | |
| XM_006717940.2:c.6244G>A | XP_006718003.1:p.Gly2082Ser | |
| XM_006717942.2:c.6178G>A | XP_006718005.1:p.Gly2060Ser | |
| XM_011540039.1:c.6241G>A | XP_011538341.1:p.Gly2081Ser | |
| XM_011540040.1:c.6238G>A | XP_011538342.1:p.Gly2080Ser | |
| XM_011540041.1:c.6184G>A | XP_011538343.1:p.Gly2062Ser | |
| XM_011540042.1:c.6244G>A | XP_011538344.1:p.Gly2082Ser | |
| XM_011540043.1:c.6244G>A | XP_011538345.1:p.Gly2082Ser | |
| XM_011540044.1:c.6109G>A | XP_011538346.1:p.Gly2037Ser | |
| XM_011540045.1:c.6244G>A | XP_011538347.1:p.Gly2082Ser | |
| XM_011540046.1:c.5704G>A | XP_011538348.1:p.Gly1902Ser | |
| XM_011540047.1:c.5062G>A | XP_011538349.1:p.Gly1688Ser | |
| XM_011540048.1:c.6244G>A | XP_011538350.1:p.Gly2082Ser | |
| XM_011540049.1:c.6244G>A | XP_011538351.1:p.Gly2082Ser | |
| XM_011540050.1:c.6244G>A | XP_011538352.1:p.Gly2082Ser | |
| XM_011540051.1:c.6244G>A | XP_011538353.1:p.Gly2082Ser | |
| XM_011540052.1:c.2572G>A | XP_011538354.1:p.Gly858Ser | |
| XR_945796.1:n.6487G>A | ||
| NM_022124.6:c.6049G>A MANE Select | NP_071407.4:p.Gly2017Ser |