Linked Data
dbSNP Id:
rs751058853
gnomAD v2:
18-10705420-C-A
gnomAD v3:
18-10705422-C-A
gnomAD v4:
18-10705422-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10705422C>A , CM000680.2:g.10705422C>A | GRCh38 |
| NC_000018.9:g.10705420C>A , CM000680.1:g.10705420C>A | GRCh37 |
| NC_000018.8:g.10695420C>A | NCBI36 |
| NG_034005.1:g.448341G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383408.7:c.5649G>T | ENSP00000372900.4:p.Pro1883= | |
| ENST00000643712.1:c.657G>T | ENSP00000493635.1:p.Pro219= | |
| ENST00000674853.1:c.5913G>T MANE Select | ENSP00000501957.1:p.Pro1971= | |
| ENST00000302079.10:c.5574G>T | ENSP00000303316.6:p.Pro1858= | |
| ENST00000383408.6:c.5427G>T | ENSP00000372900.3:p.Pro1809= | |
| ENST00000503781.7:c.5574G>T | ENSP00000421377.3:p.Pro1858= | |
| ENST00000580640.5:c.5649G>T | ENSP00000463094.1:p.Pro1883= | |
| ENST00000582913.5:c.5780G>T | ENSP00000462115.1:n.5780G>T | |
| NM_022068.3:c.5574G>T | NP_071351.2:p.Pro1858= | |
| XM_011525723.1:c.5706G>T | XP_011524025.1:p.Pro1902= | |
| XM_011525724.1:c.5649G>T | XP_011524026.1:p.Pro1883= | |
| XM_011525725.1:c.5616G>T | XP_011524027.1:p.Pro1872= | |
| XM_011525726.1:c.5706G>T | XP_011524028.1:p.Pro1902= | |
| XM_011525723.3:c.5706G>T | XP_011524025.1:p.Pro1902= | |
| XM_011525724.3:c.5649G>T | XP_011524026.1:p.Pro1883= | |
| XM_011525725.3:c.5616G>T | XP_011524027.1:p.Pro1872= | |
| XM_011525726.3:c.5706G>T | XP_011524028.1:p.Pro1902= | |
| XM_017025918.2:c.5667G>T | XP_016881407.1:p.Pro1889= | |
| XR_001753259.2:n.6703G>T | ||
| NM_001378183.1:c.5913G>T MANE Select | NP_001365112.1:p.Pro1971= | |
| NM_022068.4:c.5574G>T | NP_071351.2:p.Pro1858= |