Linked Data
dbSNP Id:
rs111033752
ExAC:
9:34648443 T / C
gnomAD v2:
9-34648443-T-C
gnomAD v4:
9-34648446-T-C
PubMed:
PMID:11261429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648446T>C , CM000671.2:g.34648446T>C | GRCh38 |
| NC_000009.11:g.34648443T>C , CM000671.1:g.34648443T>C | GRCh37 |
| NC_000009.10:g.34638443T>C | NCBI36 |
| NG_009029.1:g.6809T>C | |
| NG_028966.1:g.1262T>C | |
| NG_009029.2:g.6858T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*265T>C | ENSP00000509954.1:n.*265T>C | |
| ENST00000378842.8:c.677T>C MANE Select | ENSP00000368119.4:p.Leu226Pro | |
| ENST00000378842.7:c.677T>C | ENSP00000368119.3:p.Leu226Pro | |
| ENST00000450095.6:c.350T>C | ENSP00000401956.2:p.Leu117Pro | |
| ENST00000472111.5:n.933T>C | ||
| ENST00000473506.6:c.*265T>C | ENSP00000432839.2:n.*265T>C | |
| ENST00000473529.5:n.836T>C | ||
| ENST00000487381.5:n.1062T>C | ||
| ENST00000489643.6:n.452T>C | ||
| ENST00000554085.5:c.*421T>C | ENSP00000450419.1:n.*421T>C | |
| ENST00000554550.5:c.*297T>C | ENSP00000451435.1:n.*297T>C | |
| ENST00000554638.5:n.1149T>C | ||
| ENST00000555020.5:n.833T>C | ||
| ENST00000555086.5:n.681T>C | ||
| ENST00000555214.5:n.498T>C | ||
| ENST00000555754.1:n.22T>C | ||
| ENST00000556244.1:c.664T>C | ||
| ENST00000556278.1:c.422T>C | ENSP00000451792.1:p.Leu141Pro | |
| ENST00000556494.5:n.798T>C | ||
| ENST00000557706.5:n.1239T>C | ||
| NM_000155.3:c.677T>C | NP_000146.2:p.Leu226Pro | |
| NM_001258332.1:c.350T>C | NP_001245261.1:p.Leu117Pro | |
| NM_000155.4:c.677T>C MANE Select | NP_000146.2:p.Leu226Pro | |
| NM_001258332.2:c.350T>C | NP_001245261.1:p.Leu117Pro |