Linked Data
ClinVar Variation Id:
505440
dbSNP Id:
rs746594822
ExAC:
5:172661976 C / T
gnomAD v2:
5-172661976-C-T
gnomAD v3:
5-173234973-C-T
gnomAD v4:
5-173234973-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173234973C>T , CM000667.2:g.173234973C>T | GRCh38 |
| NC_000005.9:g.172661976C>T , CM000667.1:g.172661976C>T | GRCh37 |
| NC_000005.8:g.172594582C>T | NCBI36 |
| NG_013340.1:g.5340G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.111G>A MANE Select | ENSP00000327758.4:p.Leu37= | |
| ENST00000329198.4:c.111G>A | ENSP00000327758.4:p.Leu37= | |
| ENST00000424406.2:c.111G>A | ENSP00000395378.2:p.Leu37= | |
| ENST00000517440.1:c.111G>A | ENSP00000429905.1:p.Leu37= | |
| ENST00000521848.1:c.111G>A | ENSP00000427906.1:p.Leu37= | |
| NM_001166175.1:c.111G>A | NP_001159647.1:p.Leu37= | |
| NM_001166176.1:c.111G>A | NP_001159648.1:p.Leu37= | |
| NM_004387.3:c.111G>A | NP_004378.1:p.Leu37= | |
| XM_017009071.2:c.111G>A | XP_016864560.1:p.Leu37= | |
| NM_004387.4:c.111G>A MANE Select | NP_004378.1:p.Leu37= | |
| NM_001166175.2:c.111G>A | NP_001159647.1:p.Leu37= | |
| NM_001166176.2:c.111G>A | NP_001159648.1:p.Leu37= |