Linked Data
ClinVar Variation Id:
16310
dbSNP Id:
rs72549325
ExAC:
1:171076936 G / T
gnomAD v2:
1-171076936-G-T
gnomAD v3:
1-171107795-G-T
gnomAD v4:
1-171107795-G-T
PubMed:
PMID:10376762
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171107795G>T , CM000663.2:g.171107795G>T | GRCh38 |
| NC_000001.10:g.171076936G>T , CM000663.1:g.171076936G>T | GRCh37 |
| NC_000001.9:g.169343560G>T | NCBI36 |
| NG_012690.1:g.21919G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367755.9:c.442G>T MANE Select | ENSP00000356729.4:p.Gly148Ter | |
| ENST00000367755.8:c.442G>T | ENSP00000356729.4:p.Gly148Ter | |
| ENST00000479749.1:c.442G>T | ENSP00000477451.1:p.Gly148Ter | |
| NM_001002294.2:c.442G>T | NP_001002294.1:p.Gly148Ter | |
| NM_006894.5:c.442G>T | NP_008825.4:p.Gly148Ter | |
| XM_005245044.1:c.253G>T | XP_005245101.1:p.Gly85Ter | |
| XM_011509345.1:c.382G>T | XP_011507647.1:p.Gly128Ter | |
| XM_011509346.1:c.382G>T | XP_011507648.1:p.Gly128Ter | |
| NM_001319173.1:c.382G>T | NP_001306102.1:p.Gly128Ter | |
| NM_001319174.1:c.253G>T | NP_001306103.1:p.Gly85Ter | |
| XM_011509345.3:c.382G>T | XP_011507647.1:p.Gly128Ter | |
| XM_024454365.1:c.-106G>T | XP_024310133.1:n.-106G>T | |
| NM_001002294.3:c.442G>T MANE Select | NP_001002294.1:p.Gly148Ter | |
| NM_001319173.2:c.382G>T | NP_001306102.1:p.Gly128Ter | |
| NM_001319174.2:c.253G>T | NP_001306103.1:p.Gly85Ter | |
| NM_006894.6:c.442G>T | NP_008825.4:p.Gly148Ter |