Linked Data
dbSNP Id:
rs2128964375
gnomAD v4:
7-55191731-T-C
MyVariant Identifiers:
chr7:g.55259424T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55191731T>C , CM000669.2:g.55191731T>C | GRCh38 |
| NC_000007.13:g.55259424T>C , CM000669.1:g.55259424T>C | GRCh37 |
| NC_000007.12:g.55226918T>C | NCBI36 |
| NG_007726.3:g.177700T>C , LRG_304:g.177700T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2323T>C | ENSP00000413354.2:p.Leu775= | |
| ENST00000700145.1:c.831T>C | ||
| ENST00000275493.7:c.2482T>C MANE Select | ENSP00000275493.2:p.Leu828= | |
| ENST00000275493.6:c.2482T>C | ENSP00000275493.2:p.Leu828= | |
| ENST00000442591.5:c.*28+18803T>C | ENSP00000410031.1:n.*28+18803T>C | |
| ENST00000454757.6:c.2347T>C | ENSP00000395243.3:p.Leu783= | |
| ENST00000455089.5:c.2347T>C | ENSP00000415559.1:p.Leu783= | |
| NM_005228.3:c.2482T>C , LRG_304t1:c.2482T>C | NP_005219.2:p.Leu828= | |
| NM_001346897.1:c.2347T>C | NP_001333826.1:p.Leu783= | |
| NM_001346898.1:c.2482T>C | NP_001333827.1:p.Leu828= | |
| NM_001346899.1:c.2347T>C | NP_001333828.1:p.Leu783= | |
| NM_001346900.1:c.2323T>C | NP_001333829.1:p.Leu775= | |
| NM_001346941.1:c.1681T>C | NP_001333870.1:p.Leu561= | |
| NM_005228.4:c.2482T>C | NP_005219.2:p.Leu828= | |
| NM_005228.5:c.2482T>C MANE Select | NP_005219.2:p.Leu828= | |
| NM_001346897.2:c.2347T>C | NP_001333826.1:p.Leu783= | |
| NM_001346898.2:c.2482T>C | NP_001333827.1:p.Leu828= | |
| NM_001346900.2:c.2323T>C | NP_001333829.1:p.Leu775= | |
| NM_001346941.2:c.1681T>C | NP_001333870.1:p.Leu561= | |
| NM_001346899.2:c.2347T>C | NP_001333828.1:p.Leu783= |