Linked Data
dbSNP Id:
rs774825399
ExAC:
5:13769069 C / G
gnomAD v2:
5-13769069-C-G
gnomAD v4:
5-13768960-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13768960C>G , CM000667.2:g.13768960C>G | GRCh38 |
| NC_000005.9:g.13769069C>G , CM000667.1:g.13769069C>G | GRCh37 |
| NC_000005.8:g.13822069C>G | NCBI36 |
| NG_013081.1:g.180521G>C | |
| NG_013081.2:g.180521G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9897G>C MANE Select | ENSP00000265104.4:p.Gln3299His | |
| ENST00000681290.1:c.9852G>C | ENSP00000505288.1:p.Gln3284His | |
| ENST00000265104.4:c.9897G>C | ENSP00000265104.4:p.Gln3299His | |
| ENST00000504001.3:n.609G>C | ||
| NM_001369.2:c.9897G>C | NP_001360.1:p.Gln3299His | |
| XM_005248262.2:c.9852G>C | XP_005248319.1:p.Gln3284His | |
| XM_005248262.3:c.10005G>C | XP_005248319.2:p.Gln3335His | |
| XM_017009177.1:c.10005G>C | XP_016864666.1:p.Gln3335His | |
| XM_017009178.1:c.8910G>C | XP_016864667.1:p.Gln2970His | |
| XM_017009179.2:c.8910G>C | XP_016864668.1:p.Gln2970His | |
| XM_017009180.1:c.10005G>C | XP_016864669.1:p.Gln3335His | |
| XM_017009181.1:c.10005G>C | XP_016864670.1:p.Gln3335His | |
| XM_017009182.1:c.10005G>C | XP_016864671.1:p.Gln3335His | |
| XM_017009185.1:c.5094G>C | XP_016864674.1:p.Gln1698His | |
| XM_017009186.1:c.4647G>C | XP_016864675.1:p.Gln1549His | |
| XM_017009188.1:c.3984G>C | XP_016864677.1:p.Gln1328His | |
| XM_024454388.1:c.8910G>C | XP_024310156.1:p.Gln2970His | |
| XM_024454389.1:c.8499G>C | XP_024310157.1:p.Gln2833His | |
| NM_001369.3:c.9897G>C MANE Select | NP_001360.1:p.Gln3299His |