Linked Data
ClinVar Variation Id:
8838
dbSNP Id:
rs137852709
gnomAD v3:
16-23367879-C-T
gnomAD v4:
16-23367879-C-T
PubMed:
PMID:16207733
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23367879C>T , CM000678.2:g.23367879C>T | GRCh38 |
| NC_000016.9:g.23379200C>T , CM000678.1:g.23379200C>T | GRCh37 |
| NC_000016.8:g.23286701C>T | NCBI36 |
| NG_011908.1:g.70610C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343070.7:c.800C>T MANE Select | ENSP00000345751.2:p.Pro267Leu | |
| ENST00000307331.9:c.935C>T | ENSP00000302874.5:p.Pro312Leu | |
| ENST00000343070.6:c.800C>T | ENSP00000345751.2:p.Pro267Leu | |
| ENST00000564275.5:c.777-3420C>T | ENSP00000457754.1:n.777-3420C>T | |
| ENST00000566441.2:c.97C>T | ||
| ENST00000568085.5:c.800C>T | ENSP00000455673.1:p.Pro267Leu | |
| ENST00000568923.5:c.719C>T | ENSP00000456309.1:p.Pro240Leu | |
| NM_000336.2:c.800C>T | NP_000327.2:p.Pro267Leu | |
| XM_011545913.1:c.833C>T | XP_011544215.1:p.Pro278Leu | |
| XM_011545914.1:c.818C>T | XP_011544216.1:p.Pro273Leu | |
| XM_011545913.2:c.833C>T | XP_011544215.1:p.Pro278Leu | |
| XM_017023525.1:c.857C>T | XP_016879014.1:p.Pro286Leu | |
| XM_017023526.1:c.857C>T | XP_016879015.1:p.Pro286Leu | |
| NM_000336.3:c.800C>T MANE Select | NP_000327.2:p.Pro267Leu |