Linked Data
ClinVar Variation Id:
230775
dbSNP Id:
rs202222149
ExAC:
16:23619310 A / T
gnomAD v2:
16-23619310-A-T
gnomAD v3:
16-23607989-A-T
gnomAD v4:
16-23607989-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23607989A>T , CM000678.2:g.23607989A>T | GRCh38 |
| NC_000016.9:g.23619310A>T , CM000678.1:g.23619310A>T | GRCh37 |
| NC_000016.8:g.23526811A>T | NCBI36 |
| NG_007406.1:g.38369T>A , LRG_308:g.38369T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3231T>A | ENSP00000460666.3:p.Ser1077Arg | |
| ENST00000565038.2:c.*706T>A | ENSP00000459882.2:n.*706T>A | |
| ENST00000566069.6:c.3202-4320T>A | ENSP00000459237.2:n.3202-4320T>A | |
| ENST00000697377.2:c.3069T>A | ENSP00000513286.2:p.Ser1023Arg | |
| ENST00000697379.2:c.3231T>A | ENSP00000513287.2:p.Ser1077Arg | |
| ENST00000561514.2:c.2340T>A | ENSP00000460666.2:p.Ser780Arg | |
| ENST00000697374.1:c.2340T>A | ENSP00000513284.1:p.Ser780Arg | |
| ENST00000697375.1:n.4572T>A | ||
| ENST00000697376.1:c.2317-4320T>A | ENSP00000513285.1:n.2317-4320T>A | |
| ENST00000697377.1:c.2178T>A | ENSP00000513286.1:p.Ser726Arg | |
| ENST00000697378.1:n.3745T>A | ||
| ENST00000697379.1:c.2340T>A | ENSP00000513287.1:p.Ser780Arg | |
| ENST00000697380.1:n.2429T>A | ||
| ENST00000697381.1:n.1920T>A | ||
| ENST00000697382.1:c.*2T>A | ENSP00000513288.1:n.*2T>A | |
| ENST00000697383.1:c.759T>A | ENSP00000513289.1:p.Ser253Arg | |
| ENST00000261584.9:c.3225T>A MANE Select | ENSP00000261584.4:p.Ser1075Arg | |
| ENST00000261584.8:c.3225T>A | ENSP00000261584.4:p.Ser1075Arg | |
| ENST00000566069.5:c.117-4320T>A | ||
| ENST00000568219.5:c.2340T>A | ENSP00000454703.2:p.Ser780Arg | |
| NM_024675.3:c.3225T>A , LRG_308t1:c.3225T>A | NP_078951.2:p.Ser1075Arg | |
| XM_011545946.1:c.3231T>A | XP_011544248.1:p.Ser1077Arg | |
| XM_011545947.1:c.3208-4320T>A | XP_011544249.1:n.3208-4320T>A | |
| XM_011545948.1:c.2340T>A | XP_011544250.1:p.Ser780Arg | |
| XR_950851.1:n.3933T>A | ||
| XM_011545946.2:c.3231T>A | XP_011544248.1:p.Ser1077Arg | |
| XM_011545947.2:c.3208-4320T>A | XP_011544249.1:n.3208-4320T>A | |
| XM_011545948.2:c.2340T>A | XP_011544250.1:p.Ser780Arg | |
| XM_017023671.1:c.3120-4320T>A | XP_016879160.1:n.3120-4320T>A | |
| XM_017023672.2:c.3114-4320T>A | XP_016879161.1:n.3114-4320T>A | |
| XM_017023673.2:c.3202-4320T>A | XP_016879162.1:n.3202-4320T>A | |
| NM_024675.4:c.3225T>A MANE Select | NP_078951.2:p.Ser1075Arg |