Linked Data
gnomAD v4:
6-31860046-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860046C>A , CM000668.2:g.31860046C>A | GRCh38 |
| NC_000006.11:g.31827823C>A , CM000668.1:g.31827823C>A | GRCh37 |
| NC_000006.10:g.31935802C>A | NCBI36 |
| NG_008201.1:g.7887G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375631.5:c.1017G>T MANE Select | ENSP00000364782.4:p.Glu339Asp | |
| ENST00000677054.1:n.2260G>T | ||
| ENST00000677512.1:n.1298+1G>T | ||
| ENST00000678869.1:n.1605G>T | ||
| ENST00000375631.4:c.1017G>T | ENSP00000364782.4:p.Glu339Asp | |
| ENST00000480384.1:n.1220G>T | ||
| ENST00000491768.5:c.*127G>T | ENSP00000433127.1:n.*127G>T | |
| ENST00000495807.1:n.2325G>T | ||
| NM_000434.3:c.1017G>T | NP_000425.1:p.Glu339Asp | |
| NM_000434.4:c.1017G>T MANE Select | NP_000425.1:p.Glu339Asp |