Linked Data
ClinVar Variation Id:
418891
dbSNP Id:
rs572102702
gnomAD v3:
16-23635804-C-G
gnomAD v4:
16-23635804-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23635804C>G , CM000678.2:g.23635804C>G | GRCh38 |
| NC_000016.9:g.23647125C>G , CM000678.1:g.23647125C>G | GRCh37 |
| NC_000016.8:g.23554626C>G | NCBI36 |
| NG_007406.1:g.10554G>C , LRG_308:g.10554G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.748G>C | ENSP00000460666.3:p.Val250Leu | |
| ENST00000565038.2:c.211+2046G>C | ENSP00000459882.2:n.211+2046G>C | |
| ENST00000566069.6:c.742G>C | ENSP00000459237.2:p.Val248Leu | |
| ENST00000697377.2:c.748G>C | ENSP00000513286.2:p.Val250Leu | |
| ENST00000697379.2:c.748G>C | ENSP00000513287.2:p.Val250Leu | |
| ENST00000561514.2:c.-144G>C | ENSP00000460666.2:n.-144G>C | |
| ENST00000697374.1:c.-144G>C | ENSP00000513284.1:n.-144G>C | |
| ENST00000697375.1:n.2089G>C | ||
| ENST00000697376.1:c.-144G>C | ENSP00000513285.1:n.-144G>C | |
| ENST00000697377.1:c.-144G>C | ENSP00000513286.1:n.-144G>C | |
| ENST00000697378.1:n.1262G>C | ||
| ENST00000697379.1:c.-144G>C | ENSP00000513287.1:n.-144G>C | |
| ENST00000697382.1:c.-144G>C | ENSP00000513288.1:n.-144G>C | |
| ENST00000697383.1:c.48+5306G>C | ENSP00000513289.1:n.48+5306G>C | |
| ENST00000697384.1:n.896G>C | ||
| ENST00000261584.9:c.742G>C MANE Select | ENSP00000261584.4:p.Val248Leu | |
| ENST00000261584.8:c.742G>C | ENSP00000261584.4:p.Val248Leu | |
| ENST00000565038.1:c.86+2046G>C | ||
| ENST00000568219.5:c.-144G>C | ENSP00000454703.2:n.-144G>C | |
| NM_024675.3:c.742G>C , LRG_308t1:c.742G>C | NP_078951.2:p.Val248Leu | |
| XM_011545946.1:c.748G>C | XP_011544248.1:p.Val250Leu | |
| XM_011545947.1:c.748G>C | XP_011544249.1:p.Val250Leu | |
| XM_011545948.1:c.-144G>C | XP_011544250.1:n.-144G>C | |
| XR_950851.1:n.1538G>C | ||
| XM_011545946.2:c.748G>C | XP_011544248.1:p.Val250Leu | |
| XM_011545947.2:c.748G>C | XP_011544249.1:p.Val250Leu | |
| XM_011545948.2:c.-144G>C | XP_011544250.1:n.-144G>C | |
| XM_017023671.1:c.748G>C | XP_016879160.1:p.Val250Leu | |
| XM_017023672.2:c.742G>C | XP_016879161.1:p.Val248Leu | |
| XM_017023673.2:c.742G>C | XP_016879162.1:p.Val248Leu | |
| NM_024675.4:c.742G>C MANE Select | NP_078951.2:p.Val248Leu |