Linked Data
ClinVar Variation Id:
1471487
ClinVar RCV Id:
RCV001966801
dbSNP Id:
rs779547974
ExAC:
12:124158199 T / C
gnomAD v2:
12-124158199-T-C
gnomAD v4:
12-123673652-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123673652T>C , CM000674.2:g.123673652T>C | GRCh38 |
| NC_000012.11:g.124158199T>C , CM000674.1:g.124158199T>C | GRCh37 |
| NC_000012.10:g.122724152T>C | NCBI36 |
| NG_030442.1:g.7540T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303372.7:c.305T>C MANE Select | ENSP00000304941.5:p.Leu102Pro | |
| ENST00000679504.1:c.302T>C | ENSP00000505006.1:p.Leu101Pro | |
| ENST00000680500.1:c.305T>C | ENSP00000506438.1:p.Leu102Pro | |
| ENST00000680574.1:c.305T>C | ENSP00000505356.1:p.Leu102Pro | |
| ENST00000303372.6:c.305T>C | ENSP00000304941.5:p.Leu102Pro | |
| ENST00000426174.6:c.302T>C | ENSP00000395171.2:p.Leu101Pro | |
| ENST00000541523.1:c.*148T>C | ENSP00000437644.1:n.*148T>C | |
| NM_001143850.2:c.302T>C | NP_001137322.1:p.Leu101Pro | |
| NM_024809.4:c.305T>C | NP_079085.2:p.Leu102Pro | |
| XM_005253623.2:c.305T>C | XP_005253680.1:p.Leu102Pro | |
| XM_006719605.2:c.305T>C | XP_006719668.1:p.Leu102Pro | |
| XM_006719605.3:c.305T>C | XP_006719668.1:p.Leu102Pro | |
| XM_017019974.1:c.302T>C | XP_016875463.1:p.Leu101Pro | |
| XM_017019975.1:c.-481T>C | XP_016875464.1:n.-481T>C | |
| NM_024809.5:c.305T>C MANE Select | NP_079085.2:p.Leu102Pro | |
| NM_001143850.3:c.302T>C | NP_001137322.1:p.Leu101Pro |