Linked Data
ClinVar Variation Id:
1444992
ClinVar RCV Id:
RCV001958166
dbSNP Id:
rs771995749
ExAC:
7:55242419 T / C
gnomAD v2:
7-55242419-T-C
gnomAD v4:
7-55174726-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55174726T>C , CM000669.2:g.55174726T>C | GRCh38 |
| NC_000007.13:g.55242419T>C , CM000669.1:g.55242419T>C | GRCh37 |
| NC_000007.12:g.55209913T>C | NCBI36 |
| NG_007726.3:g.160695T>C , LRG_304:g.160695T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2030T>C | ENSP00000413354.2:p.Leu677Pro | |
| ENST00000700145.1:c.538T>C | ||
| ENST00000275493.7:c.2189T>C MANE Select | ENSP00000275493.2:p.Leu730Pro | |
| ENST00000275493.6:c.2189T>C | ENSP00000275493.2:p.Leu730Pro | |
| ENST00000442591.5:c.*28+1798T>C | ENSP00000410031.1:n.*28+1798T>C | |
| ENST00000454757.6:c.2054T>C | ENSP00000395243.3:p.Leu685Pro | |
| ENST00000455089.5:c.2054T>C | ENSP00000415559.1:p.Leu685Pro | |
| NM_005228.3:c.2189T>C , LRG_304t1:c.2189T>C | NP_005219.2:p.Leu730Pro | |
| NM_001346897.1:c.2054T>C | NP_001333826.1:p.Leu685Pro | |
| NM_001346898.1:c.2189T>C | NP_001333827.1:p.Leu730Pro | |
| NM_001346899.1:c.2054T>C | NP_001333828.1:p.Leu685Pro | |
| NM_001346900.1:c.2030T>C | NP_001333829.1:p.Leu677Pro | |
| NM_001346941.1:c.1388T>C | NP_001333870.1:p.Leu463Pro | |
| NM_005228.4:c.2189T>C | NP_005219.2:p.Leu730Pro | |
| NM_005228.5:c.2189T>C MANE Select | NP_005219.2:p.Leu730Pro | |
| NM_001346897.2:c.2054T>C | NP_001333826.1:p.Leu685Pro | |
| NM_001346898.2:c.2189T>C | NP_001333827.1:p.Leu730Pro | |
| NM_001346900.2:c.2030T>C | NP_001333829.1:p.Leu677Pro | |
| NM_001346941.2:c.1388T>C | NP_001333870.1:p.Leu463Pro | |
| NM_001346899.2:c.2054T>C | NP_001333828.1:p.Leu685Pro |