Linked Data
ClinVar Variation Id:
374966
dbSNP Id:
rs144018320
ExAC:
12:32955486 G / A
gnomAD v2:
12-32955486-G-A
gnomAD v3:
12-32802552-G-A
gnomAD v4:
12-32802552-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32802552G>A , CM000674.2:g.32802552G>A | GRCh38 |
| NC_000012.11:g.32955486G>A , CM000674.1:g.32955486G>A | GRCh37 |
| NC_000012.10:g.32846753G>A | NCBI36 |
| NG_009000.1:g.99295C>T , LRG_398:g.99295C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.521C>T | ||
| ENST00000700557.2:n.110C>T | ||
| ENST00000700559.2:c.2018C>T | ENSP00000515065.2:p.Pro673Leu | |
| ENST00000546498.2:n.705C>T | ||
| ENST00000549461.2:n.557C>T | ||
| ENST00000700555.1:c.449C>T | ENSP00000515062.1:p.Pro150Leu | |
| ENST00000700556.1:c.489C>T | ||
| ENST00000700557.1:c.29C>T | ENSP00000515064.1:p.Pro10Leu | |
| ENST00000700558.1:n.232C>T | ||
| ENST00000700559.1:c.1233C>T | ||
| ENST00000700560.1:n.1233C>T | ||
| ENST00000700561.1:n.1359C>T | ||
| ENST00000070846.11:c.2150C>T | ENSP00000070846.6:p.Pro717Leu | |
| ENST00000340811.9:c.2018C>T MANE Select | ENSP00000342800.5:p.Pro673Leu | |
| ENST00000070846.10:c.2150C>T | ENSP00000070846.6:p.Pro717Leu | |
| ENST00000340811.8:c.2018C>T | ENSP00000342800.4:p.Pro673Leu | |
| ENST00000549461.1:n.464C>T | ||
| ENST00000613243.1:c.2150C>T | ENSP00000478295.1:p.Pro717Leu | |
| NM_001005242.2:c.2018C>T | NP_001005242.2:p.Pro673Leu | |
| NM_004572.3:c.2150C>T , LRG_398t1:c.2150C>T | NP_004563.2:p.Pro717Leu | |
| NM_001005242.3:c.2018C>T MANE Select | NP_001005242.2:p.Pro673Leu | |
| NM_004572.4:c.2150C>T | NP_004563.2:p.Pro717Leu |