Linked Data
ClinVar Variation Id:
2370
dbSNP Id:
rs74315327
ExAC:
1:145415483 T / C
gnomAD v2:
1-145415483-T-C
gnomAD v4:
1-146019530-A-G
PubMed:
PMID:15461631
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.146019530A>G , CM000663.2:g.146019530A>G | GRCh38 |
| NC_000001.10:g.145415483T>C , CM000663.1:g.145415483T>C | GRCh37 |
| NC_000001.9:g.144126840T>C | NCBI36 |
| NG_011568.1:g.7293T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336751.11:c.302T>C MANE Select | ENSP00000337014.5:p.Leu101Pro | |
| ENST00000636675.1:c.-22+168T>C | ENSP00000490072.1:n.-22+168T>C | |
| ENST00000336751.10:c.302T>C | ENSP00000337014.5:p.Leu101Pro | |
| ENST00000357836.5:c.-38T>C | ENSP00000350495.5:n.-38T>C | |
| ENST00000475797.1:c.-21-830T>C | ENSP00000425716.1:n.-21-830T>C | |
| ENST00000497365.5:c.-22+168T>C | ENSP00000421820.1:n.-22+168T>C | |
| ENST00000634927.1:c.134+168T>C | ENSP00000489347.1:n.134+168T>C | |
| NM_001316767.1:c.-22+168T>C | NP_001303696.1:n.-22+168T>C | |
| NM_145277.4:c.-38T>C | NP_660320.3:n.-38T>C | |
| NM_202004.3:c.-22+168T>C | NP_973733.1:n.-22+168T>C | |
| NM_213652.3:c.-21-830T>C | NP_998817.1:n.-21-830T>C | |
| NM_213653.3:c.302T>C | NP_998818.1:p.Leu101Pro | |
| XM_005272932.1:c.302T>C | XP_005272989.1:p.Leu101Pro | |
| NM_001316767.2:c.-22+168T>C | NP_001303696.1:n.-22+168T>C | |
| NM_145277.5:c.-38T>C | NP_660320.3:n.-38T>C | |
| NM_202004.4:c.-22+168T>C | NP_973733.1:n.-22+168T>C | |
| NM_213652.4:c.-21-830T>C | NP_998817.1:n.-21-830T>C | |
| NM_001379352.1:c.302T>C | NP_001366281.1:p.Leu101Pro | |
| NM_213653.4:c.302T>C MANE Select | NP_998818.1:p.Leu101Pro |