Linked Data
ClinVar Variation Id:
2070167
ClinVar RCV Id:
RCV002966929
dbSNP Id:
rs1450162279
gnomAD v2:
1-154544000-C-T
gnomAD v4:
1-154571524-C-T
COSMIC:
COSM3474706
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571524C>T , CM000663.2:g.154571524C>T | GRCh38 |
| NC_000001.10:g.154544000C>T , CM000663.1:g.154544000C>T | GRCh37 |
| NC_000001.9:g.152810624C>T | NCBI36 |
| NG_008027.1:g.8744C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.701C>T MANE Select | ENSP00000357461.3:p.Pro234Leu | |
| ENST00000636034.1:c.701C>T | ENSP00000489703.1:p.Pro234Leu | |
| ENST00000637900.1:c.707C>T | ENSP00000490474.1:p.Pro236Leu | |
| ENST00000368476.3:c.701C>T | ENSP00000357461.3:p.Pro234Leu | |
| NM_000748.2:c.701C>T | NP_000739.1:p.Pro234Leu | |
| XM_017000180.2:c.191C>T | XP_016855669.1:p.Pro64Leu | |
| XR_001736952.2:n.953C>T | ||
| NM_000748.3:c.701C>T MANE Select | NP_000739.1:p.Pro234Leu |