Linked Data
ClinVar Variation Id:
8196
dbSNP Id:
rs199476094
gnomAD v4:
16-2090688-G-A
PubMed:
PMID:7581371
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2090688G>A , CM000678.2:g.2090688G>A | GRCh38 |
| NC_000016.9:g.2140689G>A , CM000678.1:g.2140689G>A | GRCh37 |
| NC_000016.8:g.2080690G>A | NCBI36 |
| NG_005895.1:g.46383G>A , LRG_487:g.46383G>A | |
| NG_008617.1:g.52533C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262304.9:c.12124C>T MANE Select | ENSP00000262304.4:p.Gln4042Ter | |
| ENST00000262304.8:c.12124C>T | ENSP00000262304.4:p.Gln4042Ter | |
| ENST00000423118.5:c.12121C>T | ENSP00000399501.1:p.Gln4041Ter | |
| ENST00000472577.1:n.152C>T | ||
| NM_000296.3:c.12121C>T | NP_000287.3:p.Gln4041Ter | |
| NM_001009944.2:c.12124C>T | NP_001009944.2:p.Gln4042Ter | |
| XM_005255370.2:c.9079C>T | XP_005255427.1:p.Gln3027Ter | |
| XM_011522525.1:c.12202C>T | XP_011520827.1:p.Gln4068Ter | |
| XM_011522526.1:c.12199C>T | XP_011520828.1:p.Gln4067Ter | |
| XM_011522527.1:c.12184C>T | XP_011520829.1:p.Gln4062Ter | |
| XM_011522528.1:c.12178C>T | XP_011520830.1:p.Gln4060Ter | |
| XM_011522529.1:c.12175C>T | XP_011520831.1:p.Gln4059Ter | |
| XM_011522530.1:c.12148C>T | XP_011520832.1:p.Gln4050Ter | |
| XM_011522531.1:c.12130C>T | XP_011520833.1:p.Gln4044Ter | |
| XM_011522532.1:c.12076C>T | XP_011520834.1:p.Gln4026Ter | |
| XM_011522533.1:c.11995C>T | XP_011520835.1:p.Gln3999Ter | |
| XM_011522534.1:c.11938C>T | XP_011520836.1:p.Gln3980Ter | |
| XM_011522535.1:c.10024C>T | XP_011520837.1:p.Gln3342Ter | |
| XM_011522537.1:c.9202C>T | XP_011520839.1:p.Gln3068Ter | |
| XR_932867.1:n.12042C>T | ||
| XM_005255370.3:c.9079C>T | XP_005255427.1:p.Gln3027Ter | |
| XM_011522528.3:c.12178C>T | XP_011520830.1:p.Gln4060Ter | |
| XM_011522529.2:c.12175C>T | XP_011520831.1:p.Gln4059Ter | |
| XM_011522537.2:c.9202C>T | XP_011520839.1:p.Gln3068Ter | |
| XM_024450298.1:c.12244C>T | XP_024306066.1:p.Gln4082Ter | |
| XM_024450299.1:c.12172C>T | XP_024306067.1:p.Gln4058Ter | |
| XM_024450300.1:c.12034C>T | XP_024306068.1:p.Gln4012Ter | |
| XM_024450301.1:c.10120C>T | XP_024306069.1:p.Gln3374Ter | |
| NM_000296.4:c.12121C>T | NP_000287.4:p.Gln4041Ter | |
| NM_001009944.3:c.12124C>T MANE Select | NP_001009944.3:p.Gln4042Ter |