Linked Data
ClinVar Variation Id:
219117
dbSNP Id:
rs864321630
gnomAD v4:
X-71382821-C-T
PubMed:
PMID:26637982
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71382821C>T , CM000685.2:g.71382821C>T | GRCh38 |
| NC_000023.10:g.70602671C>T , CM000685.1:g.70602671C>T | GRCh37 |
| NC_000023.9:g.70519396C>T | NCBI36 |
| NG_012771.2:g.21558C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276072.9:c.1012C>T | ENSP00000276072.5:p.Pro338Ser | |
| ENST00000683202.1:c.1726C>T | ENSP00000507781.1:p.Pro576Ser | |
| ENST00000683668.1:c.1012C>T | ENSP00000507280.1:p.Pro338Ser | |
| ENST00000683715.1:c.1307C>T | ||
| ENST00000683782.1:c.1726C>T | ENSP00000506996.1:p.Pro576Ser | |
| ENST00000373790.9:c.1663C>T | ENSP00000362895.5:p.Pro555Ser | |
| ENST00000423759.6:c.1726C>T MANE Select | ENSP00000406549.2:p.Pro576Ser | |
| ENST00000276072.7:c.1786C>T | ENSP00000276072.3:p.Pro596Ser | |
| ENST00000373790.8:c.1723C>T | ENSP00000362895.4:p.Pro575Ser | |
| ENST00000423759.5:c.1786C>T | ENSP00000406549.1:p.Pro596Ser | |
| NM_001286074.1:c.1786C>T | NP_001273003.1:p.Pro596Ser | |
| NM_004606.4:c.1786C>T | NP_004597.2:p.Pro596Ser | |
| NM_138923.3:c.1723C>T | NP_620278.1:p.Pro575Ser | |
| NR_104387.1:n.1862C>T | ||
| NR_104388.1:n.1862C>T | ||
| NR_104389.1:n.1862C>T | ||
| NR_104390.1:n.1862C>T | ||
| NR_104391.1:n.1862C>T | ||
| NR_104392.1:n.1862C>T | ||
| NR_104393.1:n.1862C>T | ||
| NR_104394.1:n.1862C>T | ||
| NR_104395.1:n.1862C>T | ||
| XM_005262295.1:c.1786C>T | XP_005262352.1:p.Pro596Ser | |
| XM_005262296.1:c.1786C>T | XP_005262353.1:p.Pro596Ser | |
| XM_005262297.3:c.1723C>T | XP_005262354.1:p.Pro575Ser | |
| XM_005262300.1:c.1786C>T | XP_005262357.1:p.Pro596Ser | |
| XM_006724682.2:c.1405C>T | XP_006724745.1:p.Pro469Ser | |
| XM_011531016.1:c.1786C>T | XP_011529318.1:p.Pro596Ser | |
| XR_938407.1:n.1796C>T | ||
| XM_005262297.4:c.1723C>T | XP_005262354.1:p.Pro575Ser | |
| XM_005262300.2:c.1786C>T | XP_005262357.1:p.Pro596Ser | |
| XM_024452429.1:c.1405C>T | XP_024308197.1:p.Pro469Ser | |
| XM_024452430.1:c.1786C>T | XP_024308198.1:p.Pro596Ser | |
| NM_001286074.2:c.1726C>T | NP_001273003.2:p.Pro576Ser | |
| NM_004606.5:c.1726C>T MANE Select | NP_004597.3:p.Pro576Ser | |
| NM_138923.4:c.1663C>T | NP_620278.2:p.Pro555Ser | |
| NR_104387.2:n.1744C>T | ||
| NR_104388.2:n.1744C>T | ||
| NR_104389.2:n.1744C>T | ||
| NR_104390.2:n.1744C>T | ||
| NR_104391.2:n.1744C>T | ||
| NR_104392.2:n.1744C>T | ||
| NR_104393.2:n.1744C>T | ||
| NR_104394.2:n.1744C>T | ||
| NR_104395.2:n.1744C>T |