Linked Data
dbSNP Id:
rs772291378
gnomAD v2:
16-2156586-C-T
gnomAD v3:
16-2106585-C-T
gnomAD v4:
16-2106585-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2106585C>T , CM000678.2:g.2106585C>T | GRCh38 |
| NC_000016.9:g.2156586C>T , CM000678.1:g.2156586C>T | GRCh37 |
| NC_000016.8:g.2096587C>T | NCBI36 |
| NG_008617.1:g.34314G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.7302G>A MANE Select | ENSP00000262304.4:p.Arg2434= | |
| ENST00000262304.8:c.7302G>A | ENSP00000262304.4:p.Arg2434= | |
| ENST00000415938.7:n.547G>A | ||
| ENST00000423118.5:c.7302G>A | ENSP00000399501.1:p.Arg2434= | |
| ENST00000483558.5:n.361G>A | ||
| ENST00000483731.5:n.1027G>A | ||
| ENST00000486339.6:n.1048G>A | ||
| ENST00000487932.5:c.1989G>A | ENSP00000457132.1:p.Arg663= | |
| ENST00000496574.6:n.1305G>A | ||
| ENST00000565639.6:n.1010G>A | ||
| ENST00000568591.5:c.2463G>A | ENSP00000457162.1:n.2463G>A | |
| ENST00000569983.5:n.658G>A | ||
| NM_000296.3:c.7302G>A | NP_000287.3:p.Arg2434= | |
| NM_001009944.2:c.7302G>A | NP_001009944.2:p.Arg2434= | |
| XM_005255370.2:c.4257G>A | XP_005255427.1:p.Arg1419= | |
| XM_011522525.1:c.7380G>A | XP_011520827.1:p.Arg2460= | |
| XM_011522526.1:c.7380G>A | XP_011520828.1:p.Arg2460= | |
| XM_011522527.1:c.7380G>A | XP_011520829.1:p.Arg2460= | |
| XM_011522528.1:c.7356G>A | XP_011520830.1:p.Arg2452= | |
| XM_011522529.1:c.7356G>A | XP_011520831.1:p.Arg2452= | |
| XM_011522530.1:c.7326G>A | XP_011520832.1:p.Arg2442= | |
| XM_011522531.1:c.7308G>A | XP_011520833.1:p.Arg2436= | |
| XM_011522532.1:c.7254G>A | XP_011520834.1:p.Arg2418= | |
| XM_011522533.1:c.7173G>A | XP_011520835.1:p.Arg2391= | |
| XM_011522534.1:c.7116G>A | XP_011520836.1:p.Arg2372= | |
| XM_011522535.1:c.5202G>A | XP_011520837.1:p.Arg1734= | |
| XM_011522536.1:c.7380G>A | XP_011520838.1:p.Arg2460= | |
| XM_011522537.1:c.4380G>A | XP_011520839.1:p.Arg1460= | |
| XR_932867.1:n.7395G>A | ||
| XR_932868.1:n.7395G>A | ||
| XR_932869.1:n.7395G>A | ||
| XR_932870.1:n.7395G>A | ||
| XM_005255370.3:c.4257G>A | XP_005255427.1:p.Arg1419= | |
| XM_011522528.3:c.7356G>A | XP_011520830.1:p.Arg2452= | |
| XM_011522529.2:c.7356G>A | XP_011520831.1:p.Arg2452= | |
| XM_011522537.2:c.4380G>A | XP_011520839.1:p.Arg1460= | |
| XM_024450298.1:c.7422G>A | XP_024306066.1:p.Arg2474= | |
| XM_024450299.1:c.7350G>A | XP_024306067.1:p.Arg2450= | |
| XM_024450300.1:c.7212G>A | XP_024306068.1:p.Arg2404= | |
| XM_024450301.1:c.5298G>A | XP_024306069.1:p.Arg1766= | |
| NM_000296.4:c.7302G>A | NP_000287.4:p.Arg2434= | |
| NM_001009944.3:c.7302G>A MANE Select | NP_001009944.3:p.Arg2434= |