Linked Data
ClinVar Variation Id:
475792
ClinVar RCV Id:
RCV000538515
dbSNP Id:
rs758140632
gnomAD v2:
5-110075016-G-T
gnomAD v4:
5-110739315-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.110739315G>T , CM000667.2:g.110739315G>T | GRCh38 |
| NC_000005.9:g.110075016G>T , CM000667.1:g.110075016G>T | GRCh37 |
| NC_000005.8:g.110102915G>T | NCBI36 |
| NG_051334.1:g.6180G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355943.8:c.196G>T MANE Select | ENSP00000348211.3:p.Val66Leu | |
| ENST00000355943.7:c.196G>T | ENSP00000348211.3:p.Val66Leu | |
| ENST00000447245.6:c.196G>T | ENSP00000399717.2:p.Val66Leu | |
| ENST00000508781.5:n.112+1068G>T | ||
| ENST00000513807.5:c.-204+1068G>T | ENSP00000421134.1:n.-204+1068G>T | |
| NM_001303249.1:c.196G>T | NP_001290178.1:p.Val66Leu | |
| NM_001303250.1:c.10+1068G>T | NP_001290179.1:n.10+1068G>T | |
| NM_138773.2:c.196G>T | NP_620128.1:p.Val66Leu | |
| XM_011543708.1:c.196G>T | XP_011542010.1:p.Val66Leu | |
| NM_001303249.2:c.196G>T | NP_001290178.1:p.Val66Leu | |
| NM_001303250.2:c.10+1068G>T | NP_001290179.1:n.10+1068G>T | |
| NM_138773.3:c.196G>T | NP_620128.1:p.Val66Leu | |
| NR_138151.1:n.344G>T | ||
| NM_138773.4:c.196G>T MANE Select | NP_620128.1:p.Val66Leu | |
| NM_001303249.3:c.196G>T | NP_001290178.1:p.Val66Leu | |
| NM_001303250.3:c.10+1068G>T | NP_001290179.1:n.10+1068G>T | |
| NR_138151.2:n.309G>T |