Linked Data
ClinVar Variation Id:
53690
dbSNP Id:
rs139304906
ExAC:
7:117251725 T / C
gnomAD v2:
7-117251725-T-C
gnomAD v3:
7-117611671-T-C
gnomAD v4:
7-117611671-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117611671T>C , CM000669.2:g.117611671T>C | GRCh38 |
| NC_000007.13:g.117251725T>C , CM000669.1:g.117251725T>C | GRCh37 |
| NC_000007.12:g.117038961T>C | NCBI36 |
| NG_016465.4:g.150888T>C , LRG_663:g.150888T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3230T>C | ENSP00000497673.2:p.Leu1077Pro | |
| ENST00000647978.2:c.*2944T>C | ENSP00000497658.1:n.*2944T>C | |
| ENST00000649781.2:c.3047T>C | ENSP00000497203.1:p.Leu1016Pro | |
| ENST00000685018.2:c.3230T>C | ENSP00000510194.2:p.Leu1077Pro | |
| ENST00000687278.2:c.3230T>C | ENSP00000509593.2:p.Leu1077Pro | |
| ENST00000699585.1:c.3230T>C | ENSP00000514456.1:p.Leu1077Pro | |
| ENST00000699598.1:c.3230T>C | ENSP00000514467.1:p.Leu1077Pro | |
| ENST00000699599.1:c.3230T>C | ENSP00000514468.1:p.Leu1077Pro | |
| ENST00000699600.1:c.3230T>C | ENSP00000514469.1:p.Leu1077Pro | |
| ENST00000699601.1:c.*1530T>C | ENSP00000514470.1:n.*1530T>C | |
| ENST00000699602.1:c.3230T>C | ENSP00000514471.1:p.Leu1077Pro | |
| ENST00000699604.1:c.*3054T>C | ENSP00000514472.1:n.*3054T>C | |
| ENST00000699605.1:c.2804T>C | ENSP00000514473.1:p.Leu935Pro | |
| ENST00000687278.1:c.821T>C | ENSP00000509593.1:p.Leu274Pro | |
| ENST00000003084.11:c.3230T>C MANE Select | ENSP00000003084.6:p.Leu1077Pro | |
| ENST00000647720.1:c.880T>C | ||
| ENST00000648260.1:c.2012T>C | ENSP00000497957.1:p.Leu671Pro | |
| ENST00000649406.1:c.3047T>C | ENSP00000497965.1:p.Leu1016Pro | |
| ENST00000649781.1:c.3047T>C | ENSP00000497203.1:p.Leu1016Pro | |
| ENST00000003084.10:c.3230T>C | ENSP00000003084.6:p.Leu1077Pro | |
| ENST00000426809.5:c.3140T>C | ENSP00000389119.1:p.Leu1047Pro | |
| ENST00000468795.1:c.55T>C | ||
| NM_000492.3:c.3230T>C , LRG_663t1:c.3230T>C | NP_000483.3:p.Leu1077Pro | |
| XM_011515751.1:c.3320T>C | XP_011514053.1:p.Leu1107Pro | |
| XM_011515752.1:c.3320T>C | XP_011514054.1:p.Leu1107Pro | |
| XM_011515753.1:c.2987T>C | XP_011514055.1:p.Leu996Pro | |
| XM_011515754.1:c.2987T>C | XP_011514056.1:p.Leu996Pro | |
| NM_000492.4:c.3230T>C MANE Select | NP_000483.3:p.Leu1077Pro |