Linked Data
dbSNP Id:
rs770509855
ExAC:
7:99358576 C / G
gnomAD v2:
7-99358576-C-G
gnomAD v4:
7-99760953-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99760953C>G , CM000669.2:g.99760953C>G | GRCh38 |
| NC_000007.13:g.99358576C>G , CM000669.1:g.99358576C>G | GRCh37 |
| NC_000007.12:g.99196512C>G | NCBI36 |
| NG_008421.1:g.28233G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.1375G>C | ENSP00000337915.3:p.Asp459His | |
| ENST00000651162.1:n.717G>C | ||
| ENST00000651514.1:c.1282G>C MANE Select | ENSP00000498939.1:p.Asp428His | |
| ENST00000651783.1:c.823G>C | ENSP00000498924.1:p.Asp275His | |
| ENST00000652018.1:c.1135G>C | ENSP00000498733.1:p.Asp379His | |
| ENST00000336411.6:c.1282G>C | ENSP00000337915.2:p.Asp428His | |
| ENST00000354593.6:c.832G>C | ENSP00000346607.2:p.Asp278His | |
| NM_001202855.2:c.1279G>C | NP_001189784.1:p.Asp427His | |
| NM_017460.5:c.1282G>C | NP_059488.2:p.Asp428His | |
| XM_011515841.1:c.1375G>C | XP_011514143.1:p.Asp459His | |
| XM_011515842.1:c.1372G>C | XP_011514144.1:p.Asp458His | |
| NM_017460.6:c.1282G>C MANE Select | NP_059488.2:p.Asp428His | |
| NM_001202855.3:c.1279G>C | NP_001189784.1:p.Asp427His |