Linked Data
dbSNP Id:
rs1310043656
gnomAD v2:
6-49587098-A-C
gnomAD v3:
6-49619385-A-C
gnomAD v4:
6-49619385-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49619385A>C , CM000668.2:g.49619385A>C | GRCh38 |
| NC_000006.11:g.49587098A>C , CM000668.1:g.49587098A>C | GRCh37 |
| NC_000006.10:g.49695057A>C | NCBI36 |
| NG_011704.1:g.22490T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371175.10:c.158-23T>G MANE Select | ENSP00000360217.4:n.158-23T>G | |
| ENST00000642530.1:n.433-23T>G | ||
| ENST00000646272.1:c.158-23T>G | ENSP00000494337.1:n.158-23T>G | |
| ENST00000646939.1:c.158-23T>G | ENSP00000494709.1:n.158-23T>G | |
| ENST00000646963.1:c.158-23T>G | ENSP00000495337.1:n.158-23T>G | |
| ENST00000229810.9:c.158-23T>G | ENSP00000229810.8:n.158-23T>G | |
| ENST00000371175.8:c.158-23T>G | ENSP00000360217.4:n.158-23T>G | |
| ENST00000618248.3:c.158-23T>G | ENSP00000482984.1:n.158-23T>G | |
| NM_000324.2:c.158-23T>G | NP_000315.2:n.158-23T>G | |
| XM_011514788.1:c.158-23T>G | XP_011513090.1:n.158-23T>G | |
| NM_000324.3:c.158-23T>G MANE Select | NP_000315.2:n.158-23T>G |