Linked Data
ClinVar Variation Id:
421226
ClinVar RCV Id:
RCV000485946
dbSNP Id:
rs1064794992
gnomAD v4:
16-89275182-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89275182G>T , CM000678.2:g.89275182G>T | GRCh38 |
| NC_000016.9:g.89341590G>T , CM000678.1:g.89341590G>T | GRCh37 |
| NC_000016.8:g.87869091G>T | NCBI36 |
| NG_032003.1:g.220380C>A | |
| NG_032003.2:g.220380C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301030.10:c.7480C>A MANE Select | ENSP00000301030.4:p.Pro2494Thr | |
| ENST00000330736.10:c.*7283C>A | ENSP00000330815.5:n.*7283C>A | |
| ENST00000378330.7:c.7480C>A | ENSP00000367581.2:p.Pro2494Thr | |
| ENST00000642600.1:c.7480C>A | ENSP00000495226.1:p.Pro2494Thr | |
| ENST00000644285.1:c.754C>A | ENSP00000496476.1:p.Pro252Thr | |
| ENST00000301030.8:c.7480C>A | ENSP00000301030.4:p.Pro2494Thr | |
| ENST00000330736.9:c.*7283C>A | ENSP00000330815.5:n.*7283C>A | |
| ENST00000378330.6:c.7480C>A | ENSP00000367581.2:p.Pro2494Thr | |
| ENST00000562194.1:c.161C>A | ||
| NM_001256182.1:c.7480C>A | NP_001243111.1:p.Pro2494Thr | |
| NM_001256183.1:c.7480C>A | NP_001243112.1:p.Pro2494Thr | |
| NM_013275.5:c.7480C>A | NP_037407.4:p.Pro2494Thr | |
| XM_006721181.1:c.7378C>A | XP_006721244.1:p.Pro2460Thr | |
| XM_006721184.2:c.7183C>A | XP_006721247.1:p.Pro2395Thr | |
| XM_011523051.1:c.7480C>A | XP_011521353.1:p.Pro2494Thr | |
| XM_011523052.1:c.7480C>A | XP_011521354.1:p.Pro2494Thr | |
| XM_011523053.1:c.7480C>A | XP_011521355.1:p.Pro2494Thr | |
| XM_011523054.1:c.7378C>A | XP_011521356.1:p.Pro2460Thr | |
| XM_011523055.1:c.7378C>A | XP_011521357.1:p.Pro2460Thr | |
| XM_011523056.1:c.7351C>A | XP_011521358.1:p.Pro2451Thr | |
| XM_011523057.1:c.7480C>A | XP_011521359.1:p.Pro2494Thr | |
| XM_011523051.3:c.7480C>A | XP_011521353.1:p.Pro2494Thr | |
| XM_011523053.2:c.7480C>A | XP_011521355.1:p.Pro2494Thr | |
| XM_011523054.2:c.7378C>A | XP_011521356.1:p.Pro2460Thr | |
| XM_011523055.2:c.7378C>A | XP_011521357.1:p.Pro2460Thr | |
| XM_011523056.2:c.7351C>A | XP_011521358.1:p.Pro2451Thr | |
| XM_011523057.2:c.7480C>A | XP_011521359.1:p.Pro2494Thr | |
| XM_017023182.2:c.7480C>A | XP_016878671.1:p.Pro2494Thr | |
| XM_017023183.1:c.7480C>A | XP_016878672.1:p.Pro2494Thr | |
| XM_017023184.1:c.7480C>A | XP_016878673.1:p.Pro2494Thr | |
| XM_017023185.1:c.7480C>A | XP_016878674.1:p.Pro2494Thr | |
| XM_017023186.1:c.7480C>A | XP_016878675.1:p.Pro2494Thr | |
| XM_017023187.1:c.7480C>A | XP_016878676.1:p.Pro2494Thr | |
| XM_024450244.1:c.7378C>A | XP_024306012.1:p.Pro2460Thr | |
| NM_013275.6:c.7480C>A MANE Select | NP_037407.4:p.Pro2494Thr | |
| NM_001256182.2:c.7480C>A | NP_001243111.1:p.Pro2494Thr | |
| NM_001256183.2:c.7480C>A | NP_001243112.1:p.Pro2494Thr |