Linked Data
ClinVar Variation Id:
2210832
ClinVar RCV Id:
RCV004079396
dbSNP Id:
rs149174447
ExAC:
19:49244636 G / A
gnomAD v2:
19-49244636-G-A
gnomAD v3:
19-48741379-G-A
gnomAD v4:
19-48741379-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48741379G>A , CM000681.2:g.48741379G>A | GRCh38 |
| NC_000019.9:g.49244636G>A , CM000681.1:g.49244636G>A | GRCh37 |
| NC_000019.8:g.53936448G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332955.7:c.854C>T MANE Select | ENSP00000327786.2:p.Pro285Leu | |
| ENST00000332955.6:c.854C>T | ENSP00000327786.2:p.Pro285Leu | |
| ENST00000595517.5:c.817C>T | ENSP00000471815.1:n.817C>T | |
| ENST00000595937.5:c.891C>T | ENSP00000470144.1:n.891C>T | |
| ENST00000599871.1:n.145C>T | ||
| NM_182575.2:c.854C>T | NP_872381.2:p.Pro285Leu | |
| XM_005258793.3:c.932C>T | XP_005258850.1:p.Pro311Leu | |
| XM_005258797.3:c.515C>T | XP_005258854.1:p.Pro172Leu | |
| XM_005258798.3:c.515C>T | XP_005258855.1:p.Pro172Leu | |
| XM_011526811.1:c.872C>T | XP_011525113.1:p.Pro291Leu | |
| XM_011526812.1:c.854C>T | XP_011525114.1:p.Pro285Leu | |
| XM_011526813.1:c.854C>T | XP_011525115.1:p.Pro285Leu | |
| XM_011526814.1:c.662C>T | XP_011525116.1:p.Pro221Leu | |
| XM_011526815.1:c.515C>T | XP_011525117.1:p.Pro172Leu | |
| XM_011526816.1:c.515C>T | XP_011525118.1:p.Pro172Leu | |
| XM_011526817.1:c.515C>T | XP_011525119.1:p.Pro172Leu | |
| XR_243923.2:n.1904C>T | ||
| XR_430196.2:n.1897C>T | ||
| NM_001321864.1:c.515C>T | NP_001308793.1:p.Pro172Leu | |
| NM_001321865.1:c.332C>T | NP_001308794.1:p.Pro111Leu | |
| NR_135832.1:n.890C>T | ||
| NM_182575.3:c.854C>T MANE Select | NP_872381.2:p.Pro285Leu |