Linked Data
ClinVar Variation Id:
9460
ClinVar RCV Id:
RCV000010068
dbSNP Id:
rs137852611
gnomAD v4:
21-44903418-A-G
PubMed:
PMID:1694220
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44903418A>G , CM000683.2:g.44903418A>G | GRCh38 |
| NC_000021.8:g.46323333A>G , CM000683.1:g.46323333A>G | GRCh37 |
| NC_000021.7:g.45147761A>G | NCBI36 |
| NG_007270.2:g.30421T>C , LRG_76:g.30421T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302347.10:c.446T>C | ENSP00000303242.6:p.Leu149Pro | |
| ENST00000652462.1:c.446T>C MANE Select | ENSP00000498780.1:p.Leu149Pro | |
| ENST00000302347.9:c.446T>C | ENSP00000303242.5:p.Leu149Pro | |
| ENST00000320216.10:c.419T>C | ENSP00000317697.6:p.Leu140Pro | |
| ENST00000355153.8:c.446T>C | ENSP00000347279.4:p.Leu149Pro | |
| ENST00000397850.6:c.446T>C | ENSP00000380948.2:p.Leu149Pro | |
| ENST00000397852.5:c.446T>C | ENSP00000380950.1:p.Leu149Pro | |
| ENST00000397854.7:c.329-1685T>C | ENSP00000380952.3:n.329-1685T>C | |
| ENST00000397857.5:c.446T>C | ENSP00000380955.1:p.Leu149Pro | |
| ENST00000498666.5:n.589T>C | ||
| ENST00000521987.1:n.230T>C | ||
| ENST00000522931.5:c.446T>C | ENSP00000428979.1:p.Leu149Pro | |
| ENST00000523323.5:c.*273T>C | ENSP00000427732.1:n.*273T>C | |
| ENST00000523663.5:c.446T>C | ENSP00000428503.1:p.Leu149Pro | |
| ENST00000610622.4:c.329-1685T>C | ENSP00000480700.1:n.329-1685T>C | |
| NM_000211.4:c.446T>C | NP_000202.3:p.Leu149Pro | |
| NM_001127491.2:c.446T>C | NP_001120963.2:p.Leu149Pro | |
| NM_001303238.1:c.239T>C | NP_001290167.1:p.Leu80Pro | |
| XM_006724001.1:c.239T>C | XP_006724064.1:p.Leu80Pro | |
| XM_006724001.2:c.239T>C | XP_006724064.1:p.Leu80Pro | |
| NM_000211.5:c.446T>C MANE Select | NP_000202.3:p.Leu149Pro | |
| NM_001127491.3:c.446T>C | NP_001120963.2:p.Leu149Pro | |
| NM_001303238.2:c.239T>C | NP_001290167.1:p.Leu80Pro |