Linked Data
dbSNP Id:
rs925515698
gnomAD v2:
17-65124921-T-C
gnomAD v3:
17-67128805-T-C
gnomAD v4:
17-67128805-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.67128805T>C , CM000679.2:g.67128805T>C | GRCh38 |
| NC_000017.10:g.65124921T>C , CM000679.1:g.65124921T>C | GRCh37 |
| NC_000017.9:g.62555383T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358691.10:c.3233A>G MANE Select | ENSP00000351524.5:p.His1078Arg | |
| ENST00000358691.9:c.3233A>G | ENSP00000351524.5:p.His1078Arg | |
| ENST00000579953.5:c.3236A>G | ENSP00000463727.1:p.His1079Arg | |
| ENST00000580168.5:c.3236A>G | ENSP00000464512.1:p.His1079Arg | |
| NM_014877.3:c.3233A>G | NP_055692.2:p.His1078Arg | |
| XM_005257888.3:c.3314A>G | XP_005257945.1:p.His1105Arg | |
| XM_005257889.3:c.3236A>G | XP_005257946.1:p.His1079Arg | |
| XM_005257890.3:c.3212A>G | XP_005257947.1:p.His1071Arg | |
| XM_006722214.2:c.3317A>G | XP_006722277.1:p.His1106Arg | |
| XM_006722215.2:c.2612A>G | XP_006722278.1:p.His871Arg | |
| XM_006722216.2:c.2141A>G | XP_006722279.1:p.His714Arg | |
| XM_011525544.1:c.3317A>G | XP_011523846.1:p.His1106Arg | |
| XM_011525545.1:c.3317A>G | XP_011523847.1:p.His1106Arg | |
| XR_934629.1:n.3308A>G | ||
| NM_001330447.1:c.3236A>G | NP_001317376.1:p.His1079Arg | |
| XM_005257888.5:c.3314A>G | XP_005257945.1:p.His1105Arg | |
| XM_006722214.4:c.3317A>G | XP_006722277.1:p.His1106Arg | |
| XM_006722215.3:c.2612A>G | XP_006722278.1:p.His871Arg | |
| XM_006722216.3:c.2141A>G | XP_006722279.1:p.His714Arg | |
| XM_011525544.2:c.3317A>G | XP_011523846.1:p.His1106Arg | |
| XM_017025477.2:c.2528A>G | XP_016880966.1:p.His843Arg | |
| XM_017025478.1:c.2060A>G | XP_016880967.1:p.His687Arg | |
| XR_001752712.2:n.3408A>G | ||
| XR_001752713.2:n.3260A>G | ||
| XR_001752714.2:n.3176A>G | ||
| NM_014877.4:c.3233A>G MANE Select | NP_055692.3:p.His1078Arg | |
| NM_001330447.2:c.3236A>G | NP_001317376.2:p.His1079Arg |