Linked Data
ClinVar Variation Id:
2226527
ClinVar RCV Id:
RCV004091160
dbSNP Id:
rs144433350
ExAC:
2:219892637 G / A
gnomAD v2:
2-219892637-G-A
gnomAD v3:
2-219027915-G-A
gnomAD v4:
2-219027915-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219027915G>A , CM000664.2:g.219027915G>A | GRCh38 |
| NC_000002.11:g.219892637G>A , CM000664.1:g.219892637G>A | GRCh37 |
| NC_000002.10:g.219600881G>A | NCBI36 |
| NG_051336.1:g.18637C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341552.10:c.1946C>T MANE Select | ENSP00000340776.5:p.Pro649Leu | |
| ENST00000341552.9:c.1946C>T | ENSP00000340776.5:p.Pro649Leu | |
| ENST00000409865.7:c.1913C>T | ENSP00000386945.3:p.Pro638Leu | |
| ENST00000410037.5:c.1751C>T | ENSP00000386258.1:p.Pro584Leu | |
| ENST00000441968.5:c.374C>T | ENSP00000413377.2:p.Pro125Leu | |
| ENST00000453220.5:c.1946C>T | ENSP00000409117.1:p.Pro649Leu | |
| ENST00000462848.5:n.2075C>T | ||
| ENST00000463683.1:n.2128C>T | ||
| ENST00000474601.1:n.708C>T | ||
| NM_001278295.1:c.1913C>T | NP_001265224.1:p.Pro638Leu | |
| NM_001278296.1:c.1751C>T | NP_001265225.1:p.Pro584Leu | |
| NM_194302.3:c.1946C>T | NP_919278.2:p.Pro649Leu | |
| XM_011510903.1:c.1949C>T | XP_011509205.1:p.Pro650Leu | |
| XM_011510904.1:c.1949C>T | XP_011509206.1:p.Pro650Leu | |
| XM_011510905.1:c.1946C>T | XP_011509207.1:p.Pro649Leu | |
| XM_011510906.1:c.1946C>T | XP_011509208.1:p.Pro649Leu | |
| XM_011510907.1:c.1946C>T | XP_011509209.1:p.Pro649Leu | |
| XM_011510908.1:c.1946C>T | XP_011509210.1:p.Pro649Leu | |
| XM_011510909.1:c.1946C>T | XP_011509211.1:p.Pro649Leu | |
| XM_011510910.1:c.1949C>T | XP_011509212.1:p.Pro650Leu | |
| XM_011510911.1:c.1751C>T | XP_011509213.1:p.Pro584Leu | |
| XM_011510912.1:c.1751C>T | XP_011509214.1:p.Pro584Leu | |
| XM_011510913.1:c.1751C>T | XP_011509215.1:p.Pro584Leu | |
| XM_011510914.1:c.1751C>T | XP_011509216.1:p.Pro584Leu | |
| XM_011510915.1:c.1751C>T | XP_011509217.1:p.Pro584Leu | |
| XM_011510916.1:c.1670C>T | XP_011509218.1:p.Pro557Leu | |
| XM_011510917.1:c.1751C>T | XP_011509219.1:p.Pro584Leu | |
| XM_011510918.1:c.1751C>T | XP_011509220.1:p.Pro584Leu | |
| XM_011510919.1:c.1949C>T | XP_011509221.1:p.Pro650Leu | |
| XM_011510920.1:c.1949C>T | XP_011509222.1:p.Pro650Leu | |
| XM_011510921.1:c.305C>T | XP_011509223.1:p.Pro102Leu | |
| XM_011510904.2:c.1949C>T | XP_011509206.1:p.Pro650Leu | |
| XM_017003752.1:c.1946C>T | XP_016859241.1:p.Pro649Leu | |
| XM_017003753.1:c.1913C>T | XP_016859242.1:p.Pro638Leu | |
| XM_017003754.1:c.1751C>T | XP_016859243.1:p.Pro584Leu | |
| XM_017003755.1:c.1751C>T | XP_016859244.1:p.Pro584Leu | |
| NM_194302.4:c.1946C>T MANE Select | NP_919278.2:p.Pro649Leu | |
| NM_001278296.2:c.1751C>T | NP_001265225.1:p.Pro584Leu |