Linked Data
ClinVar Variation Id:
2855329
ClinVar RCV Id:
RCV003701356
MyVariant Identifiers:
chr7:g.107329544C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107689099C>T , CM000669.2:g.107689099C>T | GRCh38 |
| NC_000007.13:g.107329544C>T , CM000669.1:g.107329544C>T | GRCh37 |
| NC_000007.12:g.107116780C>T | NCBI36 |
| NG_008489.1:g.33465C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1048C>T MANE Select | ENSP00000494017.1:p.Leu350= | |
| ENST00000265715.7:c.1048C>T | ENSP00000265715.3:p.Leu350= | |
| NM_000441.1:c.1048C>T | NP_000432.1:p.Leu350= | |
| XM_005250425.1:c.1048C>T | XP_005250482.1:p.Leu350= | |
| XM_006716025.2:c.1048C>T | XP_006716088.1:p.Leu350= | |
| XM_005250425.2:c.1048C>T | XP_005250482.1:p.Leu350= | |
| XM_006716025.3:c.1048C>T | XP_006716088.1:p.Leu350= | |
| XM_017012318.1:c.1048C>T | XP_016867807.1:p.Leu350= | |
| NM_000441.2:c.1048C>T MANE Select | NP_000432.1:p.Leu350= |