Linked Data
gnomAD v4:
6-31353873-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31353873T>G , CM000668.2:g.31353873T>G | GRCh38 |
| NC_000006.11:g.31321650T>G , CM000668.1:g.31321650T>G | GRCh37 |
| NC_000006.10:g.31429629T>G | NCBI36 |
| NG_023187.1:g.8340A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481849.6:n.3524A>C | ||
| ENST00000497377.6:n.3431A>C | ||
| ENST00000412585.6:c.*428A>C | ENSP00000399168.2:n.*428A>C | |
| ENST00000481849.5:n.752A>C | ||
| ENST00000497377.5:n.916A>C | ||
| NM_005514.6:c.*428A>C | NP_005505.2:n.*428A>C | |
| XM_011514556.1:c.*428A>C | XP_011512858.1:n.*428A>C | |
| XM_011514557.1:c.*428A>C | XP_011512859.1:n.*428A>C | |
| XR_926175.1:n.1956A>C | ||
| NM_005514.7:c.*428A>C | NP_005505.2:n.*428A>C |