Linked Data
dbSNP Id:
rs13210793
gnomAD v2:
6-31322174-C-G
gnomAD v3:
6-31354397-C-G
gnomAD v4:
6-31354397-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31354397C>G , CM000668.2:g.31354397C>G | GRCh38 |
| NC_000006.11:g.31322174C>G , CM000668.1:g.31322174C>G | GRCh37 |
| NC_000006.10:g.31430153C>G | NCBI36 |
| NG_023187.1:g.7816G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474381.2:n.3140+82G>C | ||
| ENST00000481849.6:n.3100+82G>C | ||
| ENST00000497377.6:n.3007+82G>C | ||
| ENST00000696558.1:c.1162+82G>C | ENSP00000512716.1:n.1162+82G>C | |
| ENST00000696559.1:c.*4+82G>C | ENSP00000512717.1:n.*4+82G>C | |
| ENST00000696560.1:c.*4+82G>C | ENSP00000512718.1:n.*4+82G>C | |
| ENST00000696561.1:c.*4+82G>C | ENSP00000512719.1:n.*4+82G>C | |
| ENST00000696562.1:c.*4+82G>C | ENSP00000512720.1:n.*4+82G>C | |
| ENST00000412585.7:c.*4+82G>C MANE Select | ENSP00000399168.2:n.*4+82G>C | |
| ENST00000412585.6:c.*4+82G>C | ENSP00000399168.2:n.*4+82G>C | |
| ENST00000481849.5:n.328+82G>C | ||
| ENST00000497377.5:n.492+82G>C | ||
| NM_005514.6:c.*4+82G>C | NP_005505.2:n.*4+82G>C | |
| XM_011514556.1:c.*4+82G>C | XP_011512858.1:n.*4+82G>C | |
| XM_011514557.1:c.*4+82G>C | XP_011512859.1:n.*4+82G>C | |
| XR_926175.1:n.1532+82G>C | ||
| NM_005514.7:c.*4+82G>C | NP_005505.2:n.*4+82G>C | |
| NM_005514.8:c.*4+82G>C MANE Select | NP_005505.2:n.*4+82G>C |