Linked Data
dbSNP Id:
rs748742356
ExAC:
2:170011036 A / T
gnomAD v2:
2-170011036-A-T
gnomAD v4:
2-169154526-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169154526A>T , CM000664.2:g.169154526A>T | GRCh38 |
| NC_000002.11:g.170011036A>T , CM000664.1:g.170011036A>T | GRCh37 |
| NC_000002.10:g.169719282A>T | NCBI36 |
| NG_012634.1:g.213087T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.12229T>A MANE Select | ENSP00000496870.1:p.Tyr4077Asn | |
| ENST00000649153.1:c.3129T>A | ||
| ENST00000650252.1:c.1257T>A | ENSP00000496887.1:p.Ser419Arg | |
| ENST00000263816.7:c.12229T>A | ENSP00000263816.3:p.Tyr4077Asn | |
| NM_004525.2:c.12229T>A | NP_004516.2:p.Tyr4077Asn | |
| XM_011511183.1:c.12100T>A | XP_011509485.1:p.Tyr4034Asn | |
| XM_011511184.1:c.9940T>A | XP_011509486.1:p.Tyr3314Asn | |
| NM_004525.3:c.12229T>A MANE Select | NP_004516.2:p.Tyr4077Asn | |
| XM_011511183.3:c.12100T>A | XP_011509485.1:p.Tyr4034Asn | |
| XM_011511184.2:c.9940T>A | XP_011509486.1:p.Tyr3314Asn |