Linked Data
ClinVar Variation Id:
2593984
ClinVar RCV Id:
RCV003358666
dbSNP Id:
rs747465702
ExAC:
16:2140550 C / G
gnomAD v2:
16-2140550-C-G
gnomAD v4:
16-2090549-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2090549C>G , CM000678.2:g.2090549C>G | GRCh38 |
| NC_000016.9:g.2140550C>G , CM000678.1:g.2140550C>G | GRCh37 |
| NC_000016.8:g.2080551C>G | NCBI36 |
| NG_005895.1:g.46244C>G , LRG_487:g.46244C>G | |
| NG_008617.1:g.52672G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.12180G>C MANE Select | ENSP00000262304.4:p.Gln4060His | |
| ENST00000262304.8:c.12180G>C | ENSP00000262304.4:p.Gln4060His | |
| ENST00000423118.5:c.12177G>C | ENSP00000399501.1:p.Gln4059His | |
| ENST00000472577.1:n.208G>C | ||
| NM_000296.3:c.12177G>C | NP_000287.3:p.Gln4059His | |
| NM_001009944.2:c.12180G>C | NP_001009944.2:p.Gln4060His | |
| XM_005255370.2:c.9135G>C | XP_005255427.1:p.Gln3045His | |
| XM_011522525.1:c.12258G>C | XP_011520827.1:p.Gln4086His | |
| XM_011522526.1:c.12255G>C | XP_011520828.1:p.Gln4085His | |
| XM_011522527.1:c.12240G>C | XP_011520829.1:p.Gln4080His | |
| XM_011522528.1:c.12234G>C | XP_011520830.1:p.Gln4078His | |
| XM_011522529.1:c.12231G>C | XP_011520831.1:p.Gln4077His | |
| XM_011522530.1:c.12204G>C | XP_011520832.1:p.Gln4068His | |
| XM_011522531.1:c.12186G>C | XP_011520833.1:p.Gln4062His | |
| XM_011522532.1:c.12132G>C | XP_011520834.1:p.Gln4044His | |
| XM_011522533.1:c.12051G>C | XP_011520835.1:p.Gln4017His | |
| XM_011522534.1:c.11994G>C | XP_011520836.1:p.Gln3998His | |
| XM_011522535.1:c.10080G>C | XP_011520837.1:p.Gln3360His | |
| XM_011522537.1:c.9258G>C | XP_011520839.1:p.Gln3086His | |
| XR_932867.1:n.12098G>C | ||
| XM_005255370.3:c.9135G>C | XP_005255427.1:p.Gln3045His | |
| XM_011522528.3:c.12234G>C | XP_011520830.1:p.Gln4078His | |
| XM_011522529.2:c.12231G>C | XP_011520831.1:p.Gln4077His | |
| XM_011522537.2:c.9258G>C | XP_011520839.1:p.Gln3086His | |
| XM_024450298.1:c.12300G>C | XP_024306066.1:p.Gln4100His | |
| XM_024450299.1:c.12228G>C | XP_024306067.1:p.Gln4076His | |
| XM_024450300.1:c.12090G>C | XP_024306068.1:p.Gln4030His | |
| XM_024450301.1:c.10176G>C | XP_024306069.1:p.Gln3392His | |
| NM_000296.4:c.12177G>C | NP_000287.4:p.Gln4059His | |
| NM_001009944.3:c.12180G>C MANE Select | NP_001009944.3:p.Gln4060His |