Linked Data
dbSNP Id:
rs772437626
ExAC:
16:2140450 G / A
gnomAD v2:
16-2140450-G-A
gnomAD v4:
16-2090449-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2090449G>A , CM000678.2:g.2090449G>A | GRCh38 |
| NC_000016.9:g.2140450G>A , CM000678.1:g.2140450G>A | GRCh37 |
| NC_000016.8:g.2080451G>A | NCBI36 |
| NG_005895.1:g.46144G>A , LRG_487:g.46144G>A | |
| NG_008617.1:g.52772C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.12280C>T MANE Select | ENSP00000262304.4:p.Arg4094Trp | |
| ENST00000262304.8:c.12280C>T | ENSP00000262304.4:p.Arg4094Trp | |
| ENST00000423118.5:c.12277C>T | ENSP00000399501.1:p.Arg4093Trp | |
| ENST00000472577.1:n.308C>T | ||
| NM_000296.3:c.12277C>T | NP_000287.3:p.Arg4093Trp | |
| NM_001009944.2:c.12280C>T | NP_001009944.2:p.Arg4094Trp | |
| XM_005255370.2:c.9235C>T | XP_005255427.1:p.Arg3079Trp | |
| XM_011522525.1:c.12358C>T | XP_011520827.1:p.Arg4120Trp | |
| XM_011522526.1:c.12355C>T | XP_011520828.1:p.Arg4119Trp | |
| XM_011522527.1:c.12340C>T | XP_011520829.1:p.Arg4114Trp | |
| XM_011522528.1:c.12334C>T | XP_011520830.1:p.Arg4112Trp | |
| XM_011522529.1:c.12331C>T | XP_011520831.1:p.Arg4111Trp | |
| XM_011522530.1:c.12304C>T | XP_011520832.1:p.Arg4102Trp | |
| XM_011522531.1:c.12286C>T | XP_011520833.1:p.Arg4096Trp | |
| XM_011522532.1:c.12232C>T | XP_011520834.1:p.Arg4078Trp | |
| XM_011522533.1:c.12151C>T | XP_011520835.1:p.Arg4051Trp | |
| XM_011522534.1:c.12094C>T | XP_011520836.1:p.Arg4032Trp | |
| XM_011522535.1:c.10180C>T | XP_011520837.1:p.Arg3394Trp | |
| XM_011522537.1:c.9358C>T | XP_011520839.1:p.Arg3120Trp | |
| XR_932867.1:n.12198C>T | ||
| XM_005255370.3:c.9235C>T | XP_005255427.1:p.Arg3079Trp | |
| XM_011522528.3:c.12334C>T | XP_011520830.1:p.Arg4112Trp | |
| XM_011522529.2:c.12331C>T | XP_011520831.1:p.Arg4111Trp | |
| XM_011522537.2:c.9358C>T | XP_011520839.1:p.Arg3120Trp | |
| XM_024450298.1:c.12400C>T | XP_024306066.1:p.Arg4134Trp | |
| XM_024450299.1:c.12328C>T | XP_024306067.1:p.Arg4110Trp | |
| XM_024450300.1:c.12190C>T | XP_024306068.1:p.Arg4064Trp | |
| XM_024450301.1:c.10276C>T | XP_024306069.1:p.Arg3426Trp | |
| NM_000296.4:c.12277C>T | NP_000287.4:p.Arg4093Trp | |
| NM_001009944.3:c.12280C>T MANE Select | NP_001009944.3:p.Arg4094Trp |