Linked Data
dbSNP Id:
rs747830427
ExAC:
4:74280848 T / C
gnomAD v2:
4-74280848-T-C
gnomAD v4:
4-73415131-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73415131T>C , CM000666.2:g.73415131T>C | GRCh38 |
| NC_000004.11:g.74280848T>C , CM000666.1:g.74280848T>C | GRCh37 |
| NC_000004.10:g.74499712T>C | NCBI36 |
| NG_009291.1:g.15877T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.1155T>C MANE Select | ENSP00000295897.4:p.Cys385= | |
| ENST00000295897.8:c.1155T>C | ENSP00000295897.4:p.Cys385= | |
| ENST00000401494.7:c.810T>C | ENSP00000384695.3:p.Cys270= | |
| ENST00000415165.6:c.579T>C | ENSP00000401820.2:p.Cys193= | |
| ENST00000476441.6:c.*434T>C | ENSP00000423727.1:n.*434T>C | |
| ENST00000484992.1:n.475T>C | ||
| ENST00000503124.5:c.705T>C | ENSP00000421027.1:p.Cys235= | |
| ENST00000504043.1:n.158T>C | ||
| ENST00000505649.5:n.841T>C | ||
| ENST00000509063.5:c.1155T>C | ENSP00000422784.1:p.Cys385= | |
| ENST00000511370.1:c.688T>C | ||
| ENST00000621085.4:c.516T>C | ENSP00000483421.1:p.Cys172= | |
| ENST00000621628.4:c.516T>C | ENSP00000480485.1:p.Cys172= | |
| NM_000477.5:c.1155T>C | NP_000468.1:p.Cys385= | |
| NM_000477.6:c.1155T>C | NP_000468.1:p.Cys385= | |
| NM_000477.7:c.1155T>C MANE Select | NP_000468.1:p.Cys385= |