Linked Data
ClinVar Variation Id:
320072
dbSNP Id:
rs376791249
ExAC:
16:57935480 G / A
gnomAD v2:
16-57935480-G-A
gnomAD v3:
16-57901576-G-A
gnomAD v4:
16-57901576-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57901576G>A , CM000678.2:g.57901576G>A | GRCh38 |
| NC_000016.9:g.57935480G>A , CM000678.1:g.57935480G>A | GRCh37 |
| NC_000016.8:g.56492981G>A | NCBI36 |
| NG_016351.1:g.74541C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251102.13:c.2844C>T MANE Select | ENSP00000251102.8:p.Leu948= | |
| ENST00000251102.12:c.2844C>T | ENSP00000251102.8:p.Leu948= | |
| ENST00000564448.5:c.2826C>T | ENSP00000454633.1:p.Leu942= | |
| ENST00000569643.1:n.501C>T | ||
| NM_001286130.1:c.2826C>T | NP_001273059.1:p.Leu942= | |
| NM_001297.4:c.2844C>T | NP_001288.3:p.Leu948= | |
| XM_006721134.2:c.2844C>T | XP_006721197.1:p.Leu948= | |
| XM_011522870.1:c.1695C>T | XP_011521172.1:p.Leu565= | |
| XM_011522870.2:c.1695C>T | XP_011521172.1:p.Leu565= | |
| NM_001286130.2:c.2826C>T | NP_001273059.1:p.Leu942= | |
| NM_001297.5:c.2844C>T MANE Select | NP_001288.3:p.Leu948= |