Linked Data
ClinVar Variation Id:
17783
ClinVar RCV Id:
RCV000019361
RCV000991183
RCV001124275
RCV001126941
RCV001126942
RCV002054448
RCV002247370
RCV003952362
dbSNP Id:
rs121912759
ExAC:
17:42328579 G / A
gnomAD v2:
17-42328579-G-A
gnomAD v3:
17-44251211-G-A
gnomAD v4:
17-44251211-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44251211G>A , CM000679.2:g.44251211G>A | GRCh38 |
| NC_000017.10:g.42328579G>A , CM000679.1:g.42328579G>A | GRCh37 |
| NC_000017.9:g.39684105G>A | NCBI36 |
| NG_007498.1:g.21924C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262418.12:c.2603C>T MANE Select | ENSP00000262418.6:p.Pro868Leu | |
| ENST00000262418.10:c.2603C>T | ENSP00000262418.6:p.Pro868Leu | |
| ENST00000399246.3:c.1505C>T | ENSP00000382190.3:p.Pro502Leu | |
| NM_000342.3:c.2603C>T | NP_000333.1:p.Pro868Leu | |
| XM_005257593.3:c.2408C>T | XP_005257650.1:p.Pro803Leu | |
| XM_011525129.1:c.2513C>T | XP_011523431.1:p.Pro838Leu | |
| XM_005257593.5:c.2408C>T | XP_005257650.1:p.Pro803Leu | |
| XM_011525129.2:c.2513C>T | XP_011523431.1:p.Pro838Leu | |
| NM_000342.4:c.2603C>T MANE Select | NP_000333.1:p.Pro868Leu |