Linked Data
ClinVar Variation Id:
319757
dbSNP Id:
rs140172728
ExAC:
16:55525765 G / A
gnomAD v2:
16-55525765-G-A
gnomAD v3:
16-55491853-G-A
gnomAD v4:
16-55491853-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55491853G>A , CM000678.2:g.55491853G>A | GRCh38 |
| NC_000016.9:g.55525765G>A , CM000678.1:g.55525765G>A | GRCh37 |
| NC_000016.8:g.54083266G>A | NCBI36 |
| NG_008989.1:g.17685G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219070.9:c.1233G>A MANE Select | ENSP00000219070.4:p.Leu411= | |
| ENST00000219070.8:c.1233G>A | ENSP00000219070.4:p.Leu411= | |
| ENST00000437642.6:c.1083G>A | ENSP00000394237.2:p.Leu361= | |
| ENST00000543485.5:c.1005G>A | ENSP00000444143.1:p.Leu335= | |
| ENST00000570283.1:c.108G>A | ENSP00000456518.1:p.Leu36= | |
| ENST00000570308.5:c.1005G>A | ENSP00000461421.1:p.Leu335= | |
| NM_001127891.2:c.1083G>A | NP_001121363.1:p.Leu361= | |
| NM_001302508.1:c.1005G>A | NP_001289437.1:p.Leu335= | |
| NM_001302509.1:c.1005G>A | NP_001289438.1:p.Leu335= | |
| NM_001302510.1:c.1005G>A | NP_001289439.1:p.Leu335= | |
| NM_004530.5:c.1233G>A | NP_004521.1:p.Leu411= | |
| NM_004530.6:c.1233G>A MANE Select | NP_004521.1:p.Leu411= | |
| NM_001127891.3:c.1083G>A | NP_001121363.1:p.Leu361= | |
| NM_001302509.2:c.1005G>A | NP_001289438.1:p.Leu335= | |
| NM_001302510.2:c.1005G>A | NP_001289439.1:p.Leu335= |