Linked Data
ClinVar Variation Id:
282741
dbSNP Id:
rs367841700
ExAC:
4:15602994 C / G
gnomAD v2:
4-15602994-C-G
gnomAD v3:
4-15601371-C-G
gnomAD v4:
4-15601371-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15601371C>G , CM000666.2:g.15601371C>G | GRCh38 |
| NC_000004.11:g.15602994C>G , CM000666.1:g.15602994C>G | GRCh37 |
| NC_000004.10:g.15212092C>G | NCBI36 |
| NG_013035.1:g.136506C>G , LRG_697:g.136506C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.4845C>G | ENSP00000374303.8:p.Pro1615= | |
| ENST00000424120.6:c.4809C>G MANE Select | ENSP00000403465.1:p.Pro1603= | |
| ENST00000503292.6:c.4809C>G | ENSP00000421809.1:p.Pro1603= | |
| ENST00000506643.5:c.4662C>G | ENSP00000422931.2:p.Pro1554= | |
| ENST00000514039.6:c.915C>G | ENSP00000488534.2:p.Pro305= | |
| ENST00000634028.2:c.4603C>G | ENSP00000488669.2:n.4603C>G | |
| ENST00000650860.2:c.*2306C>G | ENSP00000498775.1:n.*2306C>G | |
| ENST00000674945.1:c.4485C>G | ENSP00000502333.1:p.Pro1495= | |
| ENST00000389652.9:c.4307C>G | ||
| ENST00000424120.5:c.4809C>G | ENSP00000403465.1:p.Pro1603= | |
| ENST00000503292.5:c.4809C>G | ENSP00000421809.1:p.Pro1603= | |
| ENST00000506643.4:c.3078C>G | ||
| ENST00000514039.5:c.425C>G | ||
| ENST00000634028.1:c.4615C>G | ENSP00000488669.1:n.4615C>G | |
| NM_001080522.2:c.4809C>G , LRG_697t1:c.4809C>G | NP_001073991.2:p.Pro1603= | |
| XM_005248177.1:c.4809C>G | XP_005248234.1:p.Pro1603= | |
| XM_011513869.1:c.4827C>G | XP_011512171.1:p.Pro1609= | |
| XM_011513870.1:c.4827C>G | XP_011512172.1:p.Pro1609= | |
| XM_011513871.1:c.4680C>G | XP_011512173.1:p.Pro1560= | |
| XM_017008482.1:c.4662C>G | XP_016863971.1:p.Pro1554= | |
| NM_001378615.1:c.4809C>G MANE Select | NP_001365544.1:p.Pro1603= | |
| NM_001378617.1:c.4662C>G | NP_001365546.1:p.Pro1554= |