Linked Data
ClinVar Variation Id:
253023
ClinVar RCV Id:
RCV000491057
dbSNP Id:
rs1114167316
PubMed:
PMID:28488678
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.4735314T>C , CM000665.2:g.4735314T>C | GRCh38 |
| NC_000003.11:g.4776998T>C , CM000665.1:g.4776998T>C | GRCh37 |
| NC_000003.10:g.4751998T>C | NCBI36 |
| NG_016144.1:g.246967T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302640.13:c.5515T>C | ENSP00000306253.9:n.5515T>C | |
| ENST00000354582.12:c.5480T>C | ENSP00000346595.8:p.Leu1827Pro | |
| ENST00000443694.5:c.5459T>C | ENSP00000401671.2:p.Leu1820Pro | |
| ENST00000354582.11:c.5480T>C | ENSP00000346595.8:p.Leu1827Pro | |
| ENST00000357086.10:c.5360T>C | ENSP00000349597.4:p.Leu1787Pro | |
| ENST00000443694.4:c.5459T>C | ENSP00000401671.2:p.Leu1820Pro | |
| ENST00000456211.8:c.5315T>C | ENSP00000397885.2:p.Leu1772Pro | |
| ENST00000544951.6:c.997-70789T>C | ENSP00000440564.1:n.997-70789T>C | |
| ENST00000647708.1:c.1403T>C | ||
| ENST00000647717.1:n.3008T>C | ||
| ENST00000648016.1:c.1839T>C | ||
| ENST00000648038.1:c.3266T>C | ENSP00000497872.1:p.Leu1089Pro | |
| ENST00000648212.1:c.2412T>C | ||
| ENST00000648266.1:c.5477T>C | ENSP00000498014.1:p.Leu1826Pro | |
| ENST00000648309.1:c.5432T>C | ENSP00000497026.1:p.Leu1811Pro | |
| ENST00000648390.1:c.446+23446T>C | ||
| ENST00000648431.1:c.2806T>C | ||
| ENST00000649015.2:c.5504T>C MANE Select | ENSP00000497605.1:p.Leu1835Pro | |
| ENST00000649144.1:n.552T>C | ||
| ENST00000649414.1:c.1079T>C | ENSP00000497099.1:p.Leu360Pro | |
| ENST00000649694.1:n.2989T>C | ||
| ENST00000650294.1:c.5462T>C | ENSP00000498056.1:p.Leu1821Pro | |
| ENST00000302640.12:c.5459T>C | ENSP00000306253.8:p.Leu1820Pro | |
| ENST00000354582.10:c.5504T>C | ENSP00000346595.7:p.Leu1835Pro | |
| ENST00000357086.9:c.5360T>C | ENSP00000349597.4:p.Leu1787Pro | |
| ENST00000443694.3:c.5459T>C | ENSP00000401671.2:p.Leu1820Pro | |
| ENST00000456211.7:c.5315T>C | ENSP00000397885.2:p.Leu1772Pro | |
| ENST00000487016.1:n.386T>C | ||
| ENST00000544951.5:c.997-70789T>C | ENSP00000440564.1:n.997-70789T>C | |
| NM_001099952.2:c.5360T>C | NP_001093422.2:p.Leu1787Pro | |
| NM_001168272.1:c.5459T>C | NP_001161744.1:p.Leu1820Pro | |
| NM_002222.5:c.5315T>C | NP_002213.5:p.Leu1772Pro | |
| XM_005265109.2:c.5435T>C | XP_005265166.1:p.Leu1812Pro | |
| XM_005265110.2:c.5387T>C | XP_005265167.1:p.Leu1796Pro | |
| XM_006713131.2:c.5438T>C | XP_006713194.1:p.Leu1813Pro | |
| XM_011533681.1:c.5507T>C | XP_011531983.1:p.Leu1836Pro | |
| XM_011533682.1:c.5507T>C | XP_011531984.1:p.Leu1836Pro | |
| XM_011533683.1:c.5504T>C | XP_011531985.1:p.Leu1835Pro | |
| XM_011533684.1:c.5480T>C | XP_011531986.1:p.Leu1827Pro | |
| XM_011533685.1:c.5474T>C | XP_011531987.1:p.Leu1825Pro | |
| XM_011533686.1:c.5471T>C | XP_011531988.1:p.Leu1824Pro | |
| XM_011533687.1:c.5462T>C | XP_011531989.1:p.Leu1821Pro | |
| XM_011533688.1:c.5435T>C | XP_011531990.1:p.Leu1812Pro | |
| XM_011533689.1:c.5507T>C | XP_011531991.1:p.Leu1836Pro | |
| XM_011533690.1:c.5507T>C | XP_011531992.1:p.Leu1836Pro | |
| XM_011533691.1:c.5507T>C | XP_011531993.1:p.Leu1836Pro | |
| XM_011533692.1:c.5507T>C | XP_011531994.1:p.Leu1836Pro | |
| XM_005265109.3:c.5435T>C | XP_005265166.1:p.Leu1812Pro | |
| XM_005265110.3:c.5387T>C | XP_005265167.1:p.Leu1796Pro | |
| XM_006713131.3:c.5438T>C | XP_006713194.1:p.Leu1813Pro | |
| XM_011533682.3:c.5507T>C | XP_011531984.1:p.Leu1836Pro | |
| XM_011533683.3:c.5504T>C | XP_011531985.1:p.Leu1835Pro | |
| XM_011533684.2:c.5480T>C | XP_011531986.1:p.Leu1827Pro | |
| XM_011533685.2:c.5474T>C | XP_011531987.1:p.Leu1825Pro | |
| XM_011533686.2:c.5471T>C | XP_011531988.1:p.Leu1824Pro | |
| XM_011533687.2:c.5462T>C | XP_011531989.1:p.Leu1821Pro | |
| XM_011533688.2:c.5435T>C | XP_011531990.1:p.Leu1812Pro | |
| XM_011533690.2:c.5507T>C | XP_011531992.1:p.Leu1836Pro | |
| XM_011533692.2:c.5507T>C | XP_011531994.1:p.Leu1836Pro | |
| XM_017006357.2:c.5504T>C | XP_016861846.1:p.Leu1835Pro | |
| XM_017006358.1:c.5504T>C | XP_016861847.1:p.Leu1835Pro | |
| NM_001099952.3:c.5360T>C | NP_001093422.2:p.Leu1787Pro | |
| NM_002222.6:c.5315T>C | NP_002213.5:p.Leu1772Pro | |
| NM_001099952.4:c.5360T>C | NP_001093422.2:p.Leu1787Pro | |
| NM_001168272.2:c.5459T>C | NP_001161744.1:p.Leu1820Pro | |
| NM_001378452.1:c.5504T>C MANE Select | NP_001365381.1:p.Leu1835Pro | |
| NM_002222.7:c.5315T>C | NP_002213.5:p.Leu1772Pro |