Linked Data
dbSNP Id:
rs142780781
ExAC:
4:74283939 C / T
gnomAD v2:
4-74283939-C-T
gnomAD v3:
4-73418222-C-T
gnomAD v4:
4-73418222-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73418222C>T , CM000666.2:g.73418222C>T | GRCh38 |
| NC_000004.11:g.74283939C>T , CM000666.1:g.74283939C>T | GRCh37 |
| NC_000004.10:g.74502803C>T | NCBI36 |
| NG_009291.1:g.18968C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1563C>T MANE Select | ENSP00000295897.4:p.Tyr521= | |
| ENST00000295897.8:c.1563C>T | ENSP00000295897.4:p.Tyr521= | |
| ENST00000401494.7:c.1218C>T | ENSP00000384695.3:p.Tyr406= | |
| ENST00000415165.6:c.987C>T | ENSP00000401820.2:p.Tyr329= | |
| ENST00000476441.6:c.*842C>T | ENSP00000423727.1:n.*842C>T | |
| ENST00000486939.1:n.217C>T | ||
| ENST00000503124.5:c.1113C>T | ENSP00000421027.1:p.Tyr371= | |
| ENST00000505649.5:n.1110C>T | ||
| ENST00000509063.5:c.1563C>T | ENSP00000422784.1:p.Tyr521= | |
| ENST00000511370.1:c.1096C>T | ||
| ENST00000621085.4:c.924C>T | ENSP00000483421.1:p.Tyr308= | |
| ENST00000621628.4:c.924C>T | ENSP00000480485.1:p.Tyr308= | |
| NM_000477.5:c.1563C>T | NP_000468.1:p.Tyr521= | |
| NM_000477.6:c.1563C>T | NP_000468.1:p.Tyr521= | |
| NM_000477.7:c.1563C>T MANE Select | NP_000468.1:p.Tyr521= |