Linked Data
ClinVar Variation Id:
2945493
ClinVar RCV Id:
RCV003803587
dbSNP Id:
rs767326124
ExAC:
12:57882829 C / G
gnomAD v2:
12-57882829-C-G
gnomAD v4:
12-57489046-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57489046C>G , CM000674.2:g.57489046C>G | GRCh38 |
| NC_000012.11:g.57882829C>G , CM000674.1:g.57882829C>G | GRCh37 |
| NC_000012.10:g.56169096C>G | NCBI36 |
| NG_034077.1:g.6094C>G | |
| NG_023205.2:g.4769G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.137C>G MANE Select | ENSP00000262027.5:p.Pro46Arg | |
| ENST00000262027.9:c.137C>G | ENSP00000262027.5:p.Pro46Arg | |
| ENST00000447721.6:n.132+847C>G | ||
| ENST00000537638.6:c.137C>G | ENSP00000446168.2:p.Pro46Arg | |
| ENST00000545888.6:c.137C>G | ENSP00000439307.2:p.Pro46Arg | |
| ENST00000546481.1:n.166C>G | ||
| ENST00000547062.5:n.160C>G | ||
| ENST00000547501.5:c.137C>G | ENSP00000447145.1:p.Pro46Arg | |
| ENST00000548146.1:n.478C>G | ||
| ENST00000548674.5:n.107C>G | ||
| ENST00000548714.5:n.160C>G | ||
| ENST00000549074.5:c.137C>G | ENSP00000447258.1:p.Pro46Arg | |
| ENST00000550449.5:n.172C>G | ||
| ENST00000551431.5:c.137C>G | ENSP00000446729.1:p.Pro46Arg | |
| ENST00000551842.5:n.160C>G | ||
| ENST00000551892.1:c.109+847C>G | ENSP00000450018.1:n.109+847C>G | |
| ENST00000552007.5:c.137C>G | ENSP00000448576.1:p.Pro46Arg | |
| ENST00000553123.1:n.361C>G | ||
| ENST00000553162.5:n.160C>G | ||
| ENST00000628866.2:c.137C>G | ENSP00000486738.1:p.Pro46Arg | |
| ENST00000630571.2:c.137C>G | ENSP00000485951.1:p.Pro46Arg | |
| ENST00000630803.1:c.109+847C>G | ENSP00000486356.1:n.109+847C>G | |
| NM_004990.3:c.137C>G | NP_004981.2:p.Pro46Arg | |
| XM_006719398.2:c.-490C>G | XP_006719461.1:n.-490C>G | |
| XM_011538353.1:c.137C>G | XP_011536655.1:p.Pro46Arg | |
| XM_006719398.4:c.-490C>G | XP_006719461.1:n.-490C>G | |
| XR_001748704.2:n.160C>G | ||
| XR_002957327.1:n.160C>G | ||
| NM_004990.4:c.137C>G MANE Select | NP_004981.2:p.Pro46Arg |