Linked Data
ClinVar Variation Id:
14294
dbSNP Id:
rs121913570
gnomAD v2:
6-129802526-T-C
gnomAD v3:
6-129481381-T-C
gnomAD v4:
6-129481381-T-C
COSMIC:
COSM4586201
PubMed:
PMID:11591858
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129481381T>C , CM000668.2:g.129481381T>C | GRCh38 |
| NC_000006.11:g.129802526T>C , CM000668.1:g.129802526T>C | GRCh37 |
| NC_000006.10:g.129844219T>C | NCBI36 |
| NG_008678.1:g.603241T>C , LRG_409:g.603241T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617695.5:c.7679T>C | ENSP00000481744.2:p.Leu2560Pro | |
| ENST00000618192.5:c.7955T>C | ENSP00000480802.2:p.Leu2652Pro | |
| ENST00000421865.3:c.7691T>C MANE Select | ENSP00000400365.2:p.Leu2564Pro | |
| ENST00000421865.2:c.7691T>C | ENSP00000400365.2:p.Leu2564Pro | |
| ENST00000617695.4:c.7679T>C | ENSP00000481744.1:p.Leu2560Pro | |
| ENST00000618192.4:c.7688T>C | ENSP00000480802.1:p.Leu2563Pro | |
| NM_000426.3:c.7691T>C , LRG_409t1:c.7691T>C | NP_000417.2:p.Leu2564Pro | |
| NM_001079823.1:c.7679T>C | NP_001073291.1:p.Leu2560Pro | |
| XM_005266981.2:c.7955T>C | XP_005267038.1:p.Leu2652Pro | |
| XM_005266982.2:c.7943T>C | XP_005267039.1:p.Leu2648Pro | |
| XM_011535820.1:c.7949T>C | XP_011534122.1:p.Leu2650Pro | |
| XM_005266981.3:c.7955T>C | XP_005267038.1:p.Leu2652Pro | |
| XM_005266982.3:c.7943T>C | XP_005267039.1:p.Leu2648Pro | |
| XM_011535820.2:c.7949T>C | XP_011534122.1:p.Leu2650Pro | |
| XM_017010851.2:c.7961T>C | XP_016866340.1:p.Leu2654Pro | |
| XM_017010852.1:c.6086T>C | XP_016866341.1:p.Leu2029Pro | |
| NM_000426.4:c.7691T>C MANE Select | NP_000417.3:p.Leu2564Pro | |
| NM_001079823.2:c.7679T>C | NP_001073291.2:p.Leu2560Pro |