Linked Data
ClinVar Variation Id:
2630673
ClinVar RCV Id:
RCV003402469
dbSNP Id:
rs779478596
ExAC:
16:2140500 G / A
gnomAD v2:
16-2140500-G-A
gnomAD v4:
16-2090499-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2090499G>A , CM000678.2:g.2090499G>A | GRCh38 |
| NC_000016.9:g.2140500G>A , CM000678.1:g.2140500G>A | GRCh37 |
| NC_000016.8:g.2080501G>A | NCBI36 |
| NG_005895.1:g.46194G>A , LRG_487:g.46194G>A | |
| NG_008617.1:g.52722C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.12230C>T MANE Select | ENSP00000262304.4:p.Ala4077Val | |
| ENST00000262304.8:c.12230C>T | ENSP00000262304.4:p.Ala4077Val | |
| ENST00000423118.5:c.12227C>T | ENSP00000399501.1:p.Ala4076Val | |
| ENST00000472577.1:n.258C>T | ||
| NM_000296.3:c.12227C>T | NP_000287.3:p.Ala4076Val | |
| NM_001009944.2:c.12230C>T | NP_001009944.2:p.Ala4077Val | |
| XM_005255370.2:c.9185C>T | XP_005255427.1:p.Ala3062Val | |
| XM_011522525.1:c.12308C>T | XP_011520827.1:p.Ala4103Val | |
| XM_011522526.1:c.12305C>T | XP_011520828.1:p.Ala4102Val | |
| XM_011522527.1:c.12290C>T | XP_011520829.1:p.Ala4097Val | |
| XM_011522528.1:c.12284C>T | XP_011520830.1:p.Ala4095Val | |
| XM_011522529.1:c.12281C>T | XP_011520831.1:p.Ala4094Val | |
| XM_011522530.1:c.12254C>T | XP_011520832.1:p.Ala4085Val | |
| XM_011522531.1:c.12236C>T | XP_011520833.1:p.Ala4079Val | |
| XM_011522532.1:c.12182C>T | XP_011520834.1:p.Ala4061Val | |
| XM_011522533.1:c.12101C>T | XP_011520835.1:p.Ala4034Val | |
| XM_011522534.1:c.12044C>T | XP_011520836.1:p.Ala4015Val | |
| XM_011522535.1:c.10130C>T | XP_011520837.1:p.Ala3377Val | |
| XM_011522537.1:c.9308C>T | XP_011520839.1:p.Ala3103Val | |
| XR_932867.1:n.12148C>T | ||
| XM_005255370.3:c.9185C>T | XP_005255427.1:p.Ala3062Val | |
| XM_011522528.3:c.12284C>T | XP_011520830.1:p.Ala4095Val | |
| XM_011522529.2:c.12281C>T | XP_011520831.1:p.Ala4094Val | |
| XM_011522537.2:c.9308C>T | XP_011520839.1:p.Ala3103Val | |
| XM_024450298.1:c.12350C>T | XP_024306066.1:p.Ala4117Val | |
| XM_024450299.1:c.12278C>T | XP_024306067.1:p.Ala4093Val | |
| XM_024450300.1:c.12140C>T | XP_024306068.1:p.Ala4047Val | |
| XM_024450301.1:c.10226C>T | XP_024306069.1:p.Ala3409Val | |
| NM_000296.4:c.12227C>T | NP_000287.4:p.Ala4076Val | |
| NM_001009944.3:c.12230C>T MANE Select | NP_001009944.3:p.Ala4077Val |