Linked Data
ClinVar Variation Id:
3231665
ClinVar RCV Id:
RCV004518381
dbSNP Id:
rs1274611330
gnomAD v2:
19-45856035-G-A
gnomAD v3:
19-45352777-G-A
gnomAD v4:
19-45352777-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352777G>A , CM000681.2:g.45352777G>A | GRCh38 |
| NC_000019.9:g.45856035G>A , CM000681.1:g.45856035G>A | GRCh37 |
| NC_000019.8:g.50547875G>A | NCBI36 |
| NG_007067.2:g.22811C>T , LRG_461:g.22811C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1871C>T | ENSP00000375808.4:p.Pro624Leu | |
| ENST00000682414.1:c.1871C>T | ENSP00000507019.1:p.Pro624Leu | |
| ENST00000682508.1:n.1900C>T | ||
| ENST00000684218.1:c.*1129C>T | ENSP00000507804.1:n.*1129C>T | |
| ENST00000684264.1:n.1427C>T | ||
| ENST00000684407.1:c.1748C>T | ENSP00000507775.1:p.Pro583Leu | |
| ENST00000684458.1:c.*357C>T | ENSP00000508260.1:n.*357C>T | |
| ENST00000684468.1:n.1583C>T | ||
| ENST00000391945.10:c.1871C>T MANE Select | ENSP00000375809.4:p.Pro624Leu | |
| ENST00000646507.1:n.1968C>T | ||
| ENST00000391941.6:c.1799C>T | ENSP00000375805.2:p.Pro600Leu | |
| ENST00000391942.6:n.1042C>T | ||
| ENST00000391944.7:c.1637C>T | ENSP00000375808.3:p.Pro546Leu | |
| ENST00000391945.8:c.1871C>T | ENSP00000375809.3:p.Pro624Leu | |
| ENST00000588652.5:n.1959C>T | ||
| NM_000400.3:c.1871C>T , LRG_461t1:c.1871C>T | NP_000391.1:p.Pro624Leu | |
| XM_011526611.1:c.1793C>T | XP_011524913.1:p.Pro598Leu | |
| XM_011526611.2:c.1793C>T | XP_011524913.1:p.Pro598Leu | |
| XM_017026467.1:c.1748C>T | XP_016881956.1:p.Pro583Leu | |
| XR_001753633.2:n.1918C>T | ||
| XR_001753634.2:n.1854C>T | ||
| NM_000400.4:c.1871C>T MANE Select | NP_000391.1:p.Pro624Leu |