Linked Data
ClinVar Variation Id:
372726
dbSNP Id:
rs200280742
ExAC:
9:79917907 C / T
gnomAD v2:
9-79917907-C-T
gnomAD v3:
9-77302991-C-T
gnomAD v4:
9-77302991-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77302991C>T , CM000671.2:g.77302991C>T | GRCh38 |
| NC_000009.11:g.79917907C>T , CM000671.1:g.79917907C>T | GRCh37 |
| NC_000009.10:g.79107727C>T | NCBI36 |
| NG_008931.1:g.130547C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360280.8:c.3889C>T MANE Select | ENSP00000353422.3:p.Arg1297Ter | |
| ENST00000643348.1:c.3889C>T | ENSP00000493592.1:p.Arg1297Ter | |
| ENST00000645632.1:c.3889C>T | ENSP00000496361.1:p.Arg1297Ter | |
| ENST00000357409.9:c.3889C>T | ENSP00000349985.5:p.Arg1297Ter | |
| ENST00000360280.7:c.3889C>T | ENSP00000353422.3:p.Arg1297Ter | |
| ENST00000376634.8:c.3889C>T | ENSP00000365821.4:p.Arg1297Ter | |
| ENST00000376636.7:c.3772C>T | ENSP00000365823.3:p.Arg1258Ter | |
| ENST00000423463.6:n.1179C>T | ||
| ENST00000493341.1:c.397C>T | ENSP00000437478.1:p.Arg133Ter | |
| NM_001018037.1:c.3772C>T | NP_001018047.1:p.Arg1258Ter | |
| NM_001018038.2:c.3889C>T | NP_001018048.1:p.Arg1297Ter | |
| NM_015186.3:c.3889C>T | NP_056001.1:p.Arg1297Ter | |
| NM_033305.2:c.3889C>T | NP_150648.2:p.Arg1297Ter | |
| XR_242579.2:n.4241C>T | ||
| XR_242580.3:n.4241C>T | ||
| XR_929740.1:n.4241C>T | ||
| XR_001746259.1:n.4241C>T | ||
| XR_001746260.1:n.4241C>T | ||
| NM_033305.3:c.3889C>T MANE Select | NP_150648.2:p.Arg1297Ter | |
| NM_001018037.2:c.3772C>T | NP_001018047.1:p.Arg1258Ter | |
| NM_001018038.3:c.3889C>T | NP_001018048.1:p.Arg1297Ter | |
| NM_015186.4:c.3889C>T | NP_056001.1:p.Arg1297Ter |