Linked Data
dbSNP Id:
rs779341394
ExAC:
6:32810660 T / C
gnomAD v2:
6-32810660-T-C
gnomAD v3:
6-32842883-T-C
gnomAD v4:
6-32842883-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32842883T>C , CM000668.2:g.32842883T>C | GRCh38 |
| NC_000006.11:g.32810660T>C , CM000668.1:g.32810660T>C | GRCh37 |
| NC_000006.10:g.32918638T>C | NCBI36 |
| NG_009793.3:g.888A>G | |
| NG_028165.1:g.7053A>G | |
| NG_009793.4:g.888A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.375A>G | ||
| ENST00000697612.1:n.1053A>G | ||
| ENST00000374881.3:c.283+59A>G | ENSP00000364015.2:n.283+59A>G | |
| ENST00000374882.8:c.295+59A>G MANE Select | ENSP00000364016.4:n.295+59A>G | |
| ENST00000650411.1:n.1616+59A>G | ||
| ENST00000650793.1:n.375A>G | ||
| ENST00000374881.2:c.283+59A>G | ENSP00000364015.2:n.283+59A>G | |
| ENST00000374882.7:c.295+59A>G | ENSP00000364016.3:n.295+59A>G | |
| ENST00000395339.7:c.295+59A>G | ENSP00000378748.3:n.295+59A>G | |
| ENST00000484003.1:n.580A>G | ||
| NM_004159.4:c.283+59A>G | NP_004150.1:n.283+59A>G | |
| NM_148919.3:c.295+59A>G | NP_683720.2:n.295+59A>G | |
| NM_148919.4:c.295+59A>G MANE Select | NP_683720.2:n.295+59A>G | |
| NM_004159.5:c.283+59A>G | NP_004150.1:n.283+59A>G |