Linked Data
ClinVar Variation Id:
1814
ClinVar RCV Id:
RCV000001887
dbSNP Id:
rs121434316
gnomAD v4:
15-38349476-C-T
PubMed:
PMID:19366998
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38349476C>T , CM000677.2:g.38349476C>T | GRCh38 |
| NC_000015.9:g.38641677C>T , CM000677.1:g.38641677C>T | GRCh37 |
| NC_000015.8:g.36428969C>T | NCBI36 |
| NG_008980.1:g.101626C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299084.9:c.637C>T MANE Select | ENSP00000299084.4:p.Gln213Ter | |
| ENST00000299084.8:c.637C>T | ENSP00000299084.4:p.Gln213Ter | |
| NM_152594.2:c.637C>T | NP_689807.1:p.Gln213Ter | |
| XM_005254202.2:c.673C>T | XP_005254259.1:p.Gln225Ter | |
| XM_005254203.3:c.415C>T | XP_005254260.1:p.Gln139Ter | |
| XM_011521288.1:c.574C>T | XP_011519590.1:p.Gln192Ter | |
| XM_011521289.1:c.574C>T | XP_011519591.1:p.Gln192Ter | |
| XM_011521290.1:c.574C>T | XP_011519592.1:p.Gln192Ter | |
| XM_005254202.3:c.673C>T | XP_005254259.1:p.Gln225Ter | |
| XM_011521289.3:c.574C>T | XP_011519591.1:p.Gln192Ter | |
| NM_152594.3:c.637C>T MANE Select | NP_689807.1:p.Gln213Ter |