Linked Data
ClinVar Variation Id:
14157
ClinVar RCV Id:
RCV001378786
dbSNP Id:
rs121913612
gnomAD v2:
1-43818439-C-T
gnomAD v4:
1-43352768-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43352768C>T , CM000663.2:g.43352768C>T | GRCh38 |
| NC_000001.10:g.43818439C>T , CM000663.1:g.43818439C>T | GRCh37 |
| NC_000001.9:g.43591026C>T | NCBI36 |
| NG_007525.1:g.19965C>T , LRG_510:g.19965C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372470.9:c.1904C>T MANE Select | ENSP00000361548.3:p.Pro635Leu | |
| ENST00000413998.7:c.1883C>T | ENSP00000414004.3:p.Pro628Leu | |
| ENST00000372470.7:c.1904C>T | ENSP00000361548.3:p.Pro635Leu | |
| NM_005373.2:c.1904C>T , LRG_510t1:c.1904C>T | NP_005364.1:p.Pro635Leu | |
| XM_011541478.1:c.1883C>T | XP_011539780.1:p.Pro628Leu | |
| XM_017001320.1:c.2075C>T | XP_016856809.1:p.Pro692Leu | |
| NM_005373.3:c.1904C>T MANE Select | NP_005364.1:p.Pro635Leu |