Linked Data
dbSNP Id:
rs768850975
ExAC:
2:170011016 A / G
gnomAD v2:
2-170011016-A-G
gnomAD v4:
2-169154506-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169154506A>G , CM000664.2:g.169154506A>G | GRCh38 |
| NC_000002.11:g.170011016A>G , CM000664.1:g.170011016A>G | GRCh37 |
| NC_000002.10:g.169719262A>G | NCBI36 |
| NG_012634.1:g.213107T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.12249T>C MANE Select | ENSP00000496870.1:p.Tyr4083= | |
| ENST00000649153.1:c.3149T>C | ||
| ENST00000650252.1:c.1277T>C | ENSP00000496887.1:p.Ile426Thr | |
| ENST00000263816.7:c.12249T>C | ENSP00000263816.3:p.Tyr4083= | |
| NM_004525.2:c.12249T>C | NP_004516.2:p.Tyr4083= | |
| XM_011511183.1:c.12120T>C | XP_011509485.1:p.Tyr4040= | |
| XM_011511184.1:c.9960T>C | XP_011509486.1:p.Tyr3320= | |
| NM_004525.3:c.12249T>C MANE Select | NP_004516.2:p.Tyr4083= | |
| XM_011511183.3:c.12120T>C | XP_011509485.1:p.Tyr4040= | |
| XM_011511184.2:c.9960T>C | XP_011509486.1:p.Tyr3320= |