Linked Data
ClinVar Variation Id:
2952470
ClinVar RCV Id:
RCV003815621
MyVariant Identifiers:
chr6:g.75838108G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75128392G>A , CM000668.2:g.75128392G>A | GRCh38 |
| NC_000006.11:g.75838108G>A , CM000668.1:g.75838108G>A | GRCh37 |
| NC_000006.10:g.75894828G>A | NCBI36 |
| NG_042181.1:g.82516C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.6244C>T MANE Select | ENSP00000325146.8:p.Leu2082= | |
| ENST00000322507.12:c.6244C>T | ENSP00000325146.8:p.Leu2082= | |
| ENST00000345356.10:c.2752C>T | ENSP00000305147.9:p.Leu918= | |
| ENST00000416123.6:c.6244C>T | ENSP00000412864.2:p.Leu2082= | |
| ENST00000483888.6:c.6244C>T | ENSP00000421216.1:p.Leu2082= | |
| ENST00000615798.4:c.2677C>T | ENSP00000483232.1:p.Leu893= | |
| NM_004370.5:c.6244C>T | NP_004361.3:p.Leu2082= | |
| NM_080645.2:c.2752C>T | NP_542376.2:p.Leu918= | |
| XM_011535434.1:c.6244C>T | XP_011533736.1:p.Leu2082= | |
| XM_011535435.1:c.5971C>T | XP_011533737.1:p.Leu1991= | |
| XM_011535436.1:c.2752C>T | XP_011533738.1:p.Leu918= | |
| XM_011535436.2:c.2752C>T | XP_011533738.1:p.Leu918= | |
| XM_017010252.2:c.6208C>T | XP_016865741.1:p.Leu2070= | |
| NM_004370.6:c.6244C>T MANE Select | NP_004361.3:p.Leu2082= | |
| NM_080645.3:c.2752C>T | NP_542376.2:p.Leu918= |