Linked Data
dbSNP Id:
rs1245496080
gnomAD v2:
10-101577189-T-A
gnomAD v3:
10-99817432-T-A
gnomAD v4:
10-99817432-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99817432T>A , CM000672.2:g.99817432T>A | GRCh38 |
| NC_000010.10:g.101577189T>A , CM000672.1:g.101577189T>A | GRCh37 |
| NC_000010.9:g.101567179T>A | NCBI36 |
| NG_011798.1:g.39727T>A | |
| NG_011798.2:g.39835T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.2219T>A MANE Select | ENSP00000497274.1:p.Leu740His | |
| ENST00000370449.8:c.2219T>A | ENSP00000359478.4:p.Leu740His | |
| NM_000392.4:c.2219T>A | NP_000383.1:p.Leu740His | |
| XM_006717630.2:c.1523T>A | XP_006717693.1:p.Leu508His | |
| XM_006717631.2:c.2219T>A | XP_006717694.1:p.Leu740His | |
| XM_011539291.1:c.2219T>A | XP_011537593.1:p.Leu740His | |
| XR_945604.1:n.2408T>A | ||
| XR_945605.1:n.2410T>A | ||
| NM_000392.5:c.2219T>A MANE Select | NP_000383.2:p.Leu740His | |
| XM_006717630.3:c.1523T>A | XP_006717693.1:p.Leu508His | |
| XM_006717631.4:c.2219T>A | XP_006717694.1:p.Leu740His | |
| XM_011539291.3:c.2219T>A | XP_011537593.1:p.Leu740His | |
| XM_017015675.2:c.2219T>A | XP_016871164.1:p.Leu740His | |
| XR_945604.3:n.2462T>A | ||
| XR_945605.3:n.2462T>A |