Linked Data
ClinVar Variation Id:
568
ClinVar RCV Id:
RCV000000598
dbSNP Id:
rs267607057
ExAC:
10:73104012 T / G
gnomAD v2:
10-73104012-T-G
gnomAD v3:
10-71344255-T-G
gnomAD v4:
10-71344255-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71344255T>G , CM000672.2:g.71344255T>G | GRCh38 |
| NC_000010.10:g.73104012T>G , CM000672.1:g.73104012T>G | GRCh37 |
| NC_000010.9:g.72774018T>G | NCBI36 |
| NG_017066.1:g.30003T>G | |
| NG_017066.2:g.29997T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697843.1:n.793T>G | ||
| ENST00000373189.6:c.347T>G MANE Select | ENSP00000362285.5:p.Met116Arg | |
| ENST00000479577.2:c.113T>G | ENSP00000493995.1:p.Met38Arg | |
| ENST00000642198.1:c.67-7307T>G | ENSP00000494827.1:n.67-7307T>G | |
| ENST00000642772.1:c.301-11826T>G | ENSP00000495041.1:n.301-11826T>G | |
| ENST00000643042.1:c.232-11826T>G | ENSP00000496674.1:n.232-11826T>G | |
| ENST00000643619.1:c.113T>G | ENSP00000494378.1:p.Met38Arg | |
| ENST00000643752.1:c.347T>G | ENSP00000495000.1:p.Met116Arg | |
| ENST00000644088.1:c.301-11826T>G | ENSP00000494066.1:n.301-11826T>G | |
| ENST00000644591.1:c.301-7307T>G | ENSP00000496664.1:n.301-7307T>G | |
| ENST00000644895.1:c.301-7307T>G | ENSP00000493872.1:n.301-7307T>G | |
| ENST00000645345.1:c.301-7307T>G | ENSP00000495859.1:n.301-7307T>G | |
| ENST00000647524.1:c.347T>G | ENSP00000495077.1:p.Met116Arg | |
| ENST00000373189.5:c.347T>G | ENSP00000362285.5:p.Met116Arg | |
| NM_001174098.1:c.347T>G | NP_001167569.1:p.Met116Arg | |
| NM_018344.5:c.347T>G | NP_060814.4:p.Met116Arg | |
| NR_033413.1:n.358-7307T>G | ||
| NR_033414.1:n.358-11826T>G | ||
| XM_006717910.2:c.113T>G | XP_006717973.1:p.Met38Arg | |
| XR_946051.1:n.626-2874A>C | ||
| NM_001363518.1:c.113T>G | NP_001350447.1:p.Met38Arg | |
| XM_017016377.2:c.-55-7307T>G | XP_016871866.1:n.-55-7307T>G | |
| XM_017016378.2:c.-8-11826T>G | XP_016871867.1:n.-8-11826T>G | |
| XR_001747496.1:n.1552-2874A>C | ||
| XR_946051.2:n.1552-2874A>C | ||
| NM_018344.6:c.347T>G MANE Select | NP_060814.4:p.Met116Arg | |
| NM_001174098.2:c.347T>G | NP_001167569.1:p.Met116Arg | |
| NM_001363518.2:c.113T>G | NP_001350447.1:p.Met38Arg | |
| NR_033413.2:n.352-7307T>G | ||
| NR_033414.2:n.352-11826T>G |