Linked Data
dbSNP Id:
rs370390453
ExAC:
16:2140412 G / A
gnomAD v2:
16-2140412-G-A
gnomAD v3:
16-2090411-G-A
gnomAD v4:
16-2090411-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2090411G>A , CM000678.2:g.2090411G>A | GRCh38 |
| NC_000016.9:g.2140412G>A , CM000678.1:g.2140412G>A | GRCh37 |
| NC_000016.8:g.2080413G>A | NCBI36 |
| NG_005895.1:g.46106G>A , LRG_487:g.46106G>A | |
| NG_008617.1:g.52810C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.12318C>T MANE Select | ENSP00000262304.4:p.Leu4106= | |
| ENST00000262304.8:c.12318C>T | ENSP00000262304.4:p.Leu4106= | |
| ENST00000423118.5:c.12315C>T | ENSP00000399501.1:p.Leu4105= | |
| ENST00000472577.1:n.346C>T | ||
| NM_000296.3:c.12315C>T | NP_000287.3:p.Leu4105= | |
| NM_001009944.2:c.12318C>T | NP_001009944.2:p.Leu4106= | |
| XM_005255370.2:c.9273C>T | XP_005255427.1:p.Leu3091= | |
| XM_011522525.1:c.12396C>T | XP_011520827.1:p.Leu4132= | |
| XM_011522526.1:c.12393C>T | XP_011520828.1:p.Leu4131= | |
| XM_011522527.1:c.12378C>T | XP_011520829.1:p.Leu4126= | |
| XM_011522528.1:c.12372C>T | XP_011520830.1:p.Leu4124= | |
| XM_011522529.1:c.12369C>T | XP_011520831.1:p.Leu4123= | |
| XM_011522530.1:c.12342C>T | XP_011520832.1:p.Leu4114= | |
| XM_011522531.1:c.12324C>T | XP_011520833.1:p.Leu4108= | |
| XM_011522532.1:c.12270C>T | XP_011520834.1:p.Leu4090= | |
| XM_011522533.1:c.12189C>T | XP_011520835.1:p.Leu4063= | |
| XM_011522534.1:c.12132C>T | XP_011520836.1:p.Leu4044= | |
| XM_011522535.1:c.10218C>T | XP_011520837.1:p.Leu3406= | |
| XM_011522537.1:c.9396C>T | XP_011520839.1:p.Leu3132= | |
| XR_932867.1:n.12236C>T | ||
| XM_005255370.3:c.9273C>T | XP_005255427.1:p.Leu3091= | |
| XM_011522528.3:c.12372C>T | XP_011520830.1:p.Leu4124= | |
| XM_011522529.2:c.12369C>T | XP_011520831.1:p.Leu4123= | |
| XM_011522537.2:c.9396C>T | XP_011520839.1:p.Leu3132= | |
| XM_024450298.1:c.12438C>T | XP_024306066.1:p.Leu4146= | |
| XM_024450299.1:c.12366C>T | XP_024306067.1:p.Leu4122= | |
| XM_024450300.1:c.12228C>T | XP_024306068.1:p.Leu4076= | |
| XM_024450301.1:c.10314C>T | XP_024306069.1:p.Leu3438= | |
| NM_000296.4:c.12315C>T | NP_000287.4:p.Leu4105= | |
| NM_001009944.3:c.12318C>T MANE Select | NP_001009944.3:p.Leu4106= |