ClinVar Variation:
dbSNP:
gnomAD v4:
Revel Score:
ENST00000336642
0.984
ENST00000403799 (MANE Select)
0.984
ENST00000395796
0.984
ENST00000345378
0.984
ENST00000437084
0.984
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145593A>G , CM000669.2:g.44145593A>G | GRCh38 |
| NC_000007.13:g.44185192A>G , CM000669.1:g.44185192A>G | GRCh37 |
| NC_000007.12:g.44151717A>G | NCBI36 |
| NG_008847.1:g.48831T>C | |
| NG_008847.2:g.57578T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1155T>C | ENSP00000379142.4:n.*1155T>C | |
| ENST00000616242.5:c.*277T>C | ENSP00000482149.2:n.*277T>C | |
| ENST00000683378.1:n.383T>C | ||
| ENST00000336642.9:c.191T>C | ENSP00000338009.5:p.Leu64Pro | |
| ENST00000345378.7:c.1160T>C | ENSP00000223366.2:p.Leu387Pro | |
| ENST00000403799.8:c.1157T>C MANE Select | ENSP00000384247.3:p.Leu386Pro | |
| ENST00000671824.1:c.1220T>C | ENSP00000500264.1:p.Leu407Pro | |
| ENST00000672743.1:n.169T>C | ||
| ENST00000673284.1:c.1157T>C | ENSP00000499852.1:p.Leu386Pro | |
| ENST00000336642.8:c.209T>C | ENSP00000338009.4:p.Leu70Pro | |
| ENST00000345378.6:c.1160T>C | ENSP00000223366.2:p.Leu387Pro | |
| ENST00000395796.7:c.1154T>C | ENSP00000379142.3:p.Leu385Pro | |
| ENST00000403799.7:c.1157T>C | ENSP00000384247.3:p.Leu386Pro | |
| ENST00000437084.1:c.1106T>C | ENSP00000402840.1:p.Leu369Pro | |
| ENST00000459642.1:n.537T>C | ||
| ENST00000616242.4:c.1154T>C | ENSP00000482149.1:p.Leu385Pro | |
| NM_000162.3:c.1157T>C | NP_000153.1:p.Leu386Pro | |
| NM_033507.1:c.1160T>C | NP_277042.1:p.Leu387Pro | |
| NM_033508.1:c.1154T>C | NP_277043.1:p.Leu385Pro | |
| NM_000162.4:c.1157T>C | NP_000153.1:p.Leu386Pro | |
| NM_001354800.1:c.1157T>C | NP_001341729.1:p.Leu386Pro | |
| NM_001354801.1:c.146T>C | NP_001341730.1:p.Leu49Pro | |
| NM_001354802.1:c.17T>C | NP_001341731.1:p.Leu6Pro | |
| NM_001354803.1:c.191T>C | NP_001341732.1:p.Leu64Pro | |
| NM_033507.2:c.1160T>C | NP_277042.1:p.Leu387Pro | |
| NM_033508.2:c.1154T>C | NP_277043.1:p.Leu385Pro | |
| XM_024446707.1:c.17T>C | XP_024302475.1:p.Leu6Pro | |
| NM_000162.5:c.1157T>C MANE Select | NP_000153.1:p.Leu386Pro | |
| NM_033507.3:c.1160T>C | NP_277042.1:p.Leu387Pro | |
| NM_033508.3:c.1154T>C | NP_277043.1:p.Leu385Pro | |
| NM_001354803.2:c.191T>C | NP_001341732.1:p.Leu64Pro |