Linked Data
ClinVar Variation Id:
1199377
dbSNP Id:
rs202063530
ExAC:
1:209799242 G / A
gnomAD v2:
1-209799242-G-A
gnomAD v3:
1-209625897-G-A
gnomAD v4:
1-209625897-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209625897G>A , CM000663.2:g.209625897G>A | GRCh38 |
| NC_000001.10:g.209799242G>A , CM000663.1:g.209799242G>A | GRCh37 |
| NC_000001.9:g.207865865G>A | NCBI36 |
| NG_007116.1:g.31579C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356082.9:c.1727C>T MANE Select | ENSP00000348384.3:p.Pro576Leu | |
| ENST00000356082.8:c.1727C>T | ENSP00000348384.3:p.Pro576Leu | |
| ENST00000367030.7:c.1727C>T | ENSP00000355997.3:p.Pro576Leu | |
| ENST00000391911.5:c.1727C>T | ENSP00000375778.1:p.Pro576Leu | |
| NM_000228.2:c.1727C>T | NP_000219.2:p.Pro576Leu | |
| NM_001017402.1:c.1727C>T | NP_001017402.1:p.Pro576Leu | |
| NM_001127641.1:c.1727C>T | NP_001121113.1:p.Pro576Leu | |
| XM_005273124.3:c.1727C>T | XP_005273181.1:p.Pro576Leu | |
| XM_005273124.4:c.1727C>T | XP_005273181.1:p.Pro576Leu | |
| XM_017001272.2:c.1535C>T | XP_016856761.1:p.Pro512Leu | |
| NM_000228.3:c.1727C>T MANE Select | NP_000219.2:p.Pro576Leu | |
| NM_001017402.2:c.1727C>T | NP_001017402.1:p.Pro576Leu |