Linked Data
ClinVar Variation Id:
563
dbSNP Id:
rs121912583
ExAC:
10:73122216 G / A
gnomAD v2:
10-73122216-G-A
gnomAD v3:
10-71362459-G-A
gnomAD v4:
10-71362459-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71362459G>A , CM000672.2:g.71362459G>A | GRCh38 |
| NC_000010.10:g.73122216G>A , CM000672.1:g.73122216G>A | GRCh37 |
| NC_000010.9:g.72792222G>A | NCBI36 |
| NG_017066.1:g.48207G>A | |
| NG_017066.2:g.48201G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697843.1:n.2755G>A | ||
| ENST00000373189.6:c.1279G>A MANE Select | ENSP00000362285.5:p.Gly427Ser | |
| ENST00000479577.2:c.1045G>A | ENSP00000493995.1:p.Gly349Ser | |
| ENST00000642198.1:c.*851G>A | ENSP00000494827.1:n.*851G>A | |
| ENST00000642772.1:c.*94+6216G>A | ENSP00000495041.1:n.*94+6216G>A | |
| ENST00000643042.1:c.900G>A | ENSP00000496674.1:n.900G>A | |
| ENST00000643619.1:c.*862G>A | ENSP00000494378.1:n.*862G>A | |
| ENST00000643752.1:c.*605G>A | ENSP00000495000.1:n.*605G>A | |
| ENST00000644088.1:c.*600G>A | ENSP00000494066.1:n.*600G>A | |
| ENST00000644591.1:c.*605G>A | ENSP00000496664.1:n.*605G>A | |
| ENST00000644895.1:c.*99+6216G>A | ENSP00000493872.1:n.*99+6216G>A | |
| ENST00000645345.1:c.*851G>A | ENSP00000495859.1:n.*851G>A | |
| ENST00000647524.1:c.*862G>A | ENSP00000495077.1:n.*862G>A | |
| ENST00000373189.5:c.1279G>A | ENSP00000362285.5:p.Gly427Ser | |
| ENST00000469204.1:n.776G>A | ||
| NM_001174098.1:c.*508G>A | NP_001167569.1:n.*508G>A | |
| NM_018344.5:c.1279G>A | NP_060814.4:p.Gly427Ser | |
| NR_033413.1:n.1253G>A | ||
| NR_033414.1:n.1026G>A | ||
| XM_006717910.2:c.1045G>A | XP_006717973.1:p.Gly349Ser | |
| NM_001363518.1:c.1045G>A | NP_001350447.1:p.Gly349Ser | |
| XM_017016377.2:c.841G>A | XP_016871866.1:p.Gly281Ser | |
| XM_017016378.2:c.661G>A | XP_016871867.1:p.Gly221Ser | |
| NM_018344.6:c.1279G>A MANE Select | NP_060814.4:p.Gly427Ser | |
| NM_001174098.2:c.*508G>A | NP_001167569.1:n.*508G>A | |
| NM_001363518.2:c.1045G>A | NP_001350447.1:p.Gly349Ser | |
| NR_033413.2:n.1247G>A | ||
| NR_033414.2:n.1020G>A |