Linked Data
gnomAD v4:
6-159677144-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.159677144G>T , CM000668.2:g.159677144G>T | GRCh38 |
| NC_000006.11:g.160098176G>T , CM000668.1:g.160098176G>T | GRCh37 |
| NC_000006.10:g.160018166G>T | NCBI36 |
| NG_008729.1:g.21178C>A | |
| NG_008729.3:g.90386C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000538183.7:c.*5349C>A MANE Select | ENSP00000446252.1:n.*5349C>A | |
| ENST00000538183.6:c.*5349C>A | ENSP00000446252.1:n.*5349C>A | |
| NM_000636.4:c.*5349C>A MANE Select | NP_000627.2:n.*5349C>A | |
| NM_001322814.2:c.*5349C>A | NP_001309743.1:n.*5349C>A | |
| NM_001322815.2:c.*5349C>A | NP_001309744.1:n.*5349C>A | |
| NM_001322819.2:c.*5349C>A | NP_001309748.1:n.*5349C>A | |
| NM_001322820.2:c.*5349C>A | NP_001309749.1:n.*5349C>A |