Linked Data
dbSNP Id:
rs568696869
ExAC:
16:89220515 A / G
gnomAD v2:
16-89220515-A-G
gnomAD v3:
16-89154107-A-G
gnomAD v4:
16-89154107-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89154107A>G , CM000678.2:g.89154107A>G | GRCh38 |
| NC_000016.9:g.89220515A>G , CM000678.1:g.89220515A>G | GRCh37 |
| NC_000016.8:g.87748016A>G | NCBI36 |
| NG_031961.1:g.65299A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317447.9:c.1631A>G | ENSP00000320646.4:p.Tyr544Cys | |
| ENST00000614302.5:c.1631A>G MANE Select | ENSP00000479130.1:p.Tyr544Cys | |
| ENST00000649953.1:c.1841A>G | ENSP00000497456.1:p.Tyr614Cys | |
| ENST00000317447.8:c.1631A>G | ENSP00000320646.4:p.Tyr544Cys | |
| ENST00000378345.8:c.836A>G | ENSP00000367596.4:p.Tyr279Cys | |
| ENST00000393145.5:n.6541A>G | ||
| ENST00000406948.7:c.1631A>G | ENSP00000384627.3:p.Tyr544Cys | |
| ENST00000537116.5:n.757A>G | ||
| ENST00000537155.1:n.371A>G | ||
| ENST00000542688.5:c.*375A>G | ENSP00000446281.1:n.*375A>G | |
| ENST00000614302.4:c.1631A>G | ENSP00000479130.1:p.Tyr544Cys | |
| NM_001127214.3:c.1631A>G | NP_001120686.1:p.Tyr544Cys | |
| NM_001243279.2:c.1631A>G | NP_001230208.1:p.Tyr544Cys | |
| NM_001284316.1:c.836A>G | NP_001271245.1:p.Tyr279Cys | |
| NM_174917.4:c.1631A>G | NP_777577.2:p.Tyr544Cys | |
| NR_045667.2:n.757A>G | ||
| NR_104293.1:n.2065A>G | ||
| XR_933239.1:n.2072A>G | ||
| XR_933240.1:n.2069A>G | ||
| XR_933241.1:n.1826A>G | ||
| NR_147928.1:n.2109A>G | ||
| NR_147929.1:n.1863A>G | ||
| XM_017023020.2:c.-3474A>G | XP_016878509.1:n.-3474A>G | |
| XM_024450187.1:c.836A>G | XP_024305955.1:p.Tyr279Cys | |
| XR_001751864.2:n.1878A>G | ||
| XR_933240.3:n.2068A>G | ||
| NM_001127214.4:c.1631A>G | NP_001120686.1:p.Tyr544Cys | |
| NM_001243279.3:c.1631A>G MANE Select | NP_001230208.1:p.Tyr544Cys | |
| NM_001284316.2:c.836A>G | NP_001271245.1:p.Tyr279Cys | |
| NM_174917.5:c.1631A>G | NP_777577.2:p.Tyr544Cys | |
| NR_104293.2:n.2022A>G | ||
| NR_147928.2:n.2066A>G | ||
| NR_147929.2:n.1820A>G |