Linked Data
ClinVar Variation Id:
16305
dbSNP Id:
rs1736557
ExAC:
1:171080080 G / A
gnomAD v2:
1-171080080-G-A
gnomAD v3:
1-171110939-G-A
gnomAD v4:
1-171110939-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171110939G>A , CM000663.2:g.171110939G>A | GRCh38 |
| NC_000001.10:g.171080080G>A , CM000663.1:g.171080080G>A | GRCh37 |
| NC_000001.9:g.169346704G>A | NCBI36 |
| NG_012690.1:g.25063G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367755.9:c.769G>A MANE Select | ENSP00000356729.4:p.Val257Met | |
| ENST00000367755.8:c.769G>A | ENSP00000356729.4:p.Val257Met | |
| NM_001002294.2:c.769G>A | NP_001002294.1:p.Val257Met | |
| NM_006894.5:c.769G>A | NP_008825.4:p.Val257Met | |
| XM_005245044.1:c.580G>A | XP_005245101.1:p.Val194Met | |
| XM_011509345.1:c.709G>A | XP_011507647.1:p.Val237Met | |
| XM_011509346.1:c.709G>A | XP_011507648.1:p.Val237Met | |
| NM_001319173.1:c.709G>A | NP_001306102.1:p.Val237Met | |
| NM_001319174.1:c.580G>A | NP_001306103.1:p.Val194Met | |
| XM_011509345.3:c.709G>A | XP_011507647.1:p.Val237Met | |
| XM_024454365.1:c.80+2718G>A | XP_024310133.1:n.80+2718G>A | |
| NM_001002294.3:c.769G>A MANE Select | NP_001002294.1:p.Val257Met | |
| NM_001319173.2:c.709G>A | NP_001306102.1:p.Val237Met | |
| NM_001319174.2:c.580G>A | NP_001306103.1:p.Val194Met | |
| NM_006894.6:c.769G>A | NP_008825.4:p.Val257Met |