Linked Data
dbSNP Id:
rs2151681458
gnomAD v4:
16-2090420-A-G
MyVariant Identifiers:
chr16:g.2140421A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2090420A>G , CM000678.2:g.2090420A>G | GRCh38 |
| NC_000016.9:g.2140421A>G , CM000678.1:g.2140421A>G | GRCh37 |
| NC_000016.8:g.2080422A>G | NCBI36 |
| NG_005895.1:g.46115A>G , LRG_487:g.46115A>G | |
| NG_008617.1:g.52801T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.12309T>C MANE Select | ENSP00000262304.4:p.Ala4103= | |
| ENST00000262304.8:c.12309T>C | ENSP00000262304.4:p.Ala4103= | |
| ENST00000423118.5:c.12306T>C | ENSP00000399501.1:p.Ala4102= | |
| ENST00000472577.1:n.337T>C | ||
| NM_000296.3:c.12306T>C | NP_000287.3:p.Ala4102= | |
| NM_001009944.2:c.12309T>C | NP_001009944.2:p.Ala4103= | |
| XM_005255370.2:c.9264T>C | XP_005255427.1:p.Ala3088= | |
| XM_011522525.1:c.12387T>C | XP_011520827.1:p.Ala4129= | |
| XM_011522526.1:c.12384T>C | XP_011520828.1:p.Ala4128= | |
| XM_011522527.1:c.12369T>C | XP_011520829.1:p.Ala4123= | |
| XM_011522528.1:c.12363T>C | XP_011520830.1:p.Ala4121= | |
| XM_011522529.1:c.12360T>C | XP_011520831.1:p.Ala4120= | |
| XM_011522530.1:c.12333T>C | XP_011520832.1:p.Ala4111= | |
| XM_011522531.1:c.12315T>C | XP_011520833.1:p.Ala4105= | |
| XM_011522532.1:c.12261T>C | XP_011520834.1:p.Ala4087= | |
| XM_011522533.1:c.12180T>C | XP_011520835.1:p.Ala4060= | |
| XM_011522534.1:c.12123T>C | XP_011520836.1:p.Ala4041= | |
| XM_011522535.1:c.10209T>C | XP_011520837.1:p.Ala3403= | |
| XM_011522537.1:c.9387T>C | XP_011520839.1:p.Ala3129= | |
| XR_932867.1:n.12227T>C | ||
| XM_005255370.3:c.9264T>C | XP_005255427.1:p.Ala3088= | |
| XM_011522528.3:c.12363T>C | XP_011520830.1:p.Ala4121= | |
| XM_011522529.2:c.12360T>C | XP_011520831.1:p.Ala4120= | |
| XM_011522537.2:c.9387T>C | XP_011520839.1:p.Ala3129= | |
| XM_024450298.1:c.12429T>C | XP_024306066.1:p.Ala4143= | |
| XM_024450299.1:c.12357T>C | XP_024306067.1:p.Ala4119= | |
| XM_024450300.1:c.12219T>C | XP_024306068.1:p.Ala4073= | |
| XM_024450301.1:c.10305T>C | XP_024306069.1:p.Ala3435= | |
| NM_000296.4:c.12306T>C | NP_000287.4:p.Ala4102= | |
| NM_001009944.3:c.12309T>C MANE Select | NP_001009944.3:p.Ala4103= |