Linked Data
dbSNP Id:
rs782234860
ExAC:
7:75615162 A / T
gnomAD v2:
7-75615162-A-T
gnomAD v3:
7-75985844-A-T
gnomAD v4:
7-75985844-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75985844A>T , CM000669.2:g.75985844A>T | GRCh38 |
| NC_000007.13:g.75615162A>T , CM000669.1:g.75615162A>T | GRCh37 |
| NC_000007.12:g.75453098A>T | NCBI36 |
| NG_008930.1:g.75743A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475509.2:c.1439A>T | ENSP00000516446.1:p.Gln480Leu | |
| ENST00000706544.1:c.1565A>T | ENSP00000516442.1:p.Gln522Leu | |
| ENST00000706545.1:c.1664A>T | ENSP00000516443.1:p.Gln555Leu | |
| ENST00000706546.1:c.1664A>T | ENSP00000516444.1:p.Gln555Leu | |
| ENST00000706547.1:c.1664A>T | ENSP00000516445.1:p.Gln555Leu | |
| ENST00000461988.6:c.1664A>T MANE Select | ENSP00000419970.1:p.Gln555Leu | |
| ENST00000394893.5:c.1664A>T | ENSP00000378355.1:p.Gln555Leu | |
| ENST00000412064.6:c.*109-216A>T | ENSP00000404731.2:n.*109-216A>T | |
| ENST00000439269.1:c.878A>T | ENSP00000412490.1:p.Gln293Leu | |
| ENST00000447222.5:c.1815A>T | ||
| ENST00000454934.5:c.*969A>T | ENSP00000414263.1:n.*969A>T | |
| ENST00000461988.5:c.1664A>T | ENSP00000419970.1:p.Gln555Leu | |
| ENST00000493973.1:n.275A>T | ||
| NM_000941.2:c.1664A>T | NP_000932.3:p.Gln555Leu | |
| NM_000941.3:c.1664A>T | NP_000932.3:p.Gln555Leu | |
| NM_001367562.1:c.1664A>T | NP_001354491.1:p.Gln555Leu | |
| NM_001382655.1:c.1718A>T | NP_001369584.1:p.Gln573Leu | |
| NM_001382657.1:c.1664A>T | NP_001369586.1:p.Gln555Leu | |
| NM_001382658.1:c.1664A>T | NP_001369587.1:p.Gln555Leu | |
| NM_001382659.1:c.1664A>T | NP_001369588.1:p.Gln555Leu | |
| NM_001382662.1:c.1514A>T | NP_001369591.1:p.Gln505Leu | |
| NM_001367562.3:c.1655A>T | NP_001354491.2:p.Gln552Leu | |
| NM_001382655.3:c.1709A>T | NP_001369584.2:p.Gln570Leu | |
| NM_001382657.2:c.1655A>T | NP_001369586.2:p.Gln552Leu | |
| NM_001382658.3:c.1655A>T | NP_001369587.2:p.Gln552Leu | |
| NM_001382659.3:c.1655A>T | NP_001369588.2:p.Gln552Leu | |
| NM_001382662.3:c.1505A>T | NP_001369591.2:p.Gln502Leu | |
| NM_001395413.1:c.1655A>T MANE Select | NP_001382342.1:p.Gln552Leu |