Linked Data
dbSNP Id:
rs12660691
gnomAD v2:
6-130008445-A-C
gnomAD v3:
6-129687300-A-C
gnomAD v4:
6-129687300-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129687300A>C , CM000668.2:g.129687300A>C | GRCh38 |
| NC_000006.11:g.130008445A>C , CM000668.1:g.130008445A>C | GRCh37 |
| NC_000006.10:g.130050138A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368149.3:c.113+22724T>G MANE Select | ENSP00000357131.2:n.113+22724T>G | |
| ENST00000368149.2:c.113+22724T>G | ENSP00000357131.2:n.113+22724T>G | |
| NM_033515.2:c.113+22724T>G | NP_277050.2:n.113+22724T>G | |
| XM_005267213.1:c.113+22724T>G | XP_005267270.1:n.113+22724T>G | |
| NM_033515.3:c.113+22724T>G MANE Select | NP_277050.2:n.113+22724T>G |