Linked Data
dbSNP Id:
rs751071450
ExAC:
6:3226058 A / G
gnomAD v2:
6-3226058-A-G
gnomAD v4:
6-3225824-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225824A>G , CM000668.2:g.3225824A>G | GRCh38 |
| NC_000006.11:g.3226058A>G , CM000668.1:g.3226058A>G | GRCh37 |
| NC_000006.10:g.3171057A>G | NCBI36 |
| NG_016715.1:g.6911T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.278-13T>C MANE Select | ENSP00000259818.6:n.278-13T>C | |
| ENST00000680070.1:n.1208-13T>C | ||
| ENST00000681707.1:n.1105-13T>C | ||
| ENST00000681757.1:n.583-13T>C | ||
| ENST00000259818.7:c.278-13T>C | ENSP00000259818.6:n.278-13T>C | |
| ENST00000473006.1:n.395-13T>C | ||
| NM_178012.4:c.278-13T>C | NP_821080.1:n.278-13T>C | |
| XM_011514571.1:c.62-13T>C | XP_011512873.1:n.62-13T>C | |
| NM_178012.5:c.278-13T>C MANE Select | NP_821080.1:n.278-13T>C |