Linked Data
ClinVar Variation Id:
2682654
ClinVar RCV Id:
RCV003481521
gnomAD v4:
12-120993690-G-C
ERepo:
CA16621927/MONDO:0015967/085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120993690G>C , CM000674.2:g.120993690G>C | GRCh38 |
| NC_000012.11:g.121431493G>C , CM000674.1:g.121431493G>C | GRCh37 |
| NC_000012.10:g.119915876G>C | NCBI36 |
| NG_011731.2:g.19945G>C , LRG_522:g.19945G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.697G>C | ENSP00000453965.2:p.Val233Leu | |
| ENST00000257555.11:c.697G>C MANE Select | ENSP00000257555.5:p.Val233Leu | |
| ENST00000257555.10:c.697G>C | ENSP00000257555.4:p.Val233Leu | |
| ENST00000400024.6:c.697G>C | ENSP00000476181.1:p.Val233Leu | |
| ENST00000402929.5:n.832G>C | ||
| ENST00000535955.5:n.43-3801G>C | ||
| ENST00000538626.2:n.191-3801G>C | ||
| ENST00000538646.5:c.527-474G>C | ENSP00000443964.1:n.527-474G>C | |
| ENST00000540108.1:c.*137G>C | ENSP00000445445.1:n.*137G>C | |
| ENST00000541395.5:c.697G>C | ENSP00000443112.1:p.Val233Leu | |
| ENST00000541924.5:c.697G>C | ENSP00000440361.1:p.Val233Leu | |
| ENST00000543427.5:c.633+64G>C | ENSP00000439721.2:n.633+64G>C | |
| ENST00000544413.2:c.697G>C | ENSP00000438804.1:p.Val233Leu | |
| ENST00000544574.5:c.73-2927G>C | ENSP00000438565.1:n.73-2927G>C | |
| ENST00000560968.5:c.840G>C | ||
| ENST00000615446.4:c.-257-2572G>C | ENSP00000483994.1:n.-257-2572G>C | |
| ENST00000617366.4:c.586+111G>C | ENSP00000481967.1:n.586+111G>C | |
| NM_000545.5:c.697G>C , LRG_522t1:c.697G>C | NP_000536.5:p.Val233Leu | |
| NM_000545.6:c.697G>C | NP_000536.5:p.Val233Leu | |
| NM_001306179.1:c.697G>C | NP_001293108.1:p.Val233Leu | |
| XM_005253931.2:c.697G>C | XP_005253988.1:p.Val233Leu | |
| XM_024449168.1:c.697G>C | XP_024304936.1:p.Val233Leu | |
| NM_000545.8:c.697G>C MANE Select | NP_000536.6:p.Val233Leu | |
| NM_001306179.2:c.697G>C | NP_001293108.2:p.Val233Leu |