Linked Data
ClinVar Variation Id:
393405
ClinVar RCV Id:
RCV000445486
dbSNP Id:
rs35398707
ExAC:
7:113519433 T / C
gnomAD v2:
7-113519433-T-C
gnomAD v3:
7-113879378-T-C
gnomAD v4:
7-113879378-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.113879378T>C , CM000669.2:g.113879378T>C | GRCh38 |
| NC_000007.13:g.113519433T>C , CM000669.1:g.113519433T>C | GRCh37 |
| NC_000007.12:g.113306669T>C | NCBI36 |
| NG_012116.1:g.44650A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284601.4:c.1714A>G MANE Select | ENSP00000284601.3:p.Ile572Val | |
| ENST00000284601.3:c.1714A>G | ENSP00000284601.3:p.Ile572Val | |
| NM_002711.3:c.1714A>G | NP_002702.2:p.Ile572Val | |
| XM_005250473.2:c.1111A>G | XP_005250530.1:p.Ile371Val | |
| XM_005250473.3:c.1111A>G | XP_005250530.1:p.Ile371Val | |
| NM_002711.4:c.1714A>G MANE Select | NP_002702.2:p.Ile572Val |