Linked Data
ClinVar Variation Id:
245648
dbSNP Id:
rs146181903
ExAC:
12:110029066 C / G
gnomAD v2:
12-110029066-C-G
gnomAD v3:
12-109591261-C-G
gnomAD v4:
12-109591261-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109591261C>G , CM000674.2:g.109591261C>G | GRCh38 |
| NC_000012.11:g.110029066C>G , CM000674.1:g.110029066C>G | GRCh37 |
| NC_000012.10:g.108513449C>G | NCBI36 |
| NG_007702.1:g.22567C>G , LRG_156:g.22567C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.-55C>G | ENSP00000439134.1:n.-55C>G | |
| ENST00000546277.6:c.789C>G | ENSP00000438153.2:p.Pro263= | |
| ENST00000636529.2:n.428C>G | ||
| ENST00000697195.1:c.*553C>G | ENSP00000513181.1:n.*553C>G | |
| ENST00000697196.1:c.877C>G | ENSP00000513182.1:p.Pro293Ala | |
| ENST00000697197.1:n.2818C>G | ||
| ENST00000228510.8:c.789C>G MANE Select | ENSP00000228510.3:p.Pro263= | |
| ENST00000636529.1:c.414C>G | ||
| ENST00000636996.1:c.637C>G | ||
| ENST00000228510.7:c.789C>G | ENSP00000228510.3:p.Pro263= | |
| ENST00000392727.7:c.633C>G | ENSP00000376487.3:p.Pro211= | |
| ENST00000447878.6:c.*236C>G | ENSP00000415555.2:n.*236C>G | |
| ENST00000537237.5:c.*462C>G | ENSP00000445382.1:n.*462C>G | |
| ENST00000539575.4:c.789C>G | ENSP00000443551.2:p.Pro263= | |
| ENST00000539696.5:c.-55C>G | ENSP00000439134.1:n.-55C>G | |
| ENST00000540353.1:n.3022C>G | ||
| ENST00000625889.2:c.633C>G | ENSP00000486846.1:p.Pro211= | |
| ENST00000629016.2:c.*236C>G | ENSP00000486804.1:n.*236C>G | |
| NM_000431.3:c.789C>G | NP_000422.1:p.Pro263= | |
| NM_001114185.2:c.789C>G | NP_001107657.1:p.Pro263= | |
| NM_001301182.1:c.633C>G | NP_001288111.1:p.Pro211= | |
| XM_011538372.1:c.789C>G | XP_011536674.1:p.Pro263= | |
| XM_017019313.2:c.633C>G | XP_016874802.1:p.Pro211= | |
| XM_017019314.1:c.789C>G | XP_016874803.1:p.Pro263= | |
| XM_024448982.1:c.789C>G | XP_024304750.1:p.Pro263= | |
| NM_000431.4:c.789C>G MANE Select | NP_000422.1:p.Pro263= | |
| NM_001114185.3:c.789C>G | NP_001107657.1:p.Pro263= | |
| NM_001301182.2:c.633C>G | NP_001288111.1:p.Pro211= |