Linked Data
ClinVar Variation Id:
751882
ClinVar RCV Id:
RCV000928987
dbSNP Id:
rs772428671
ExAC:
14:100364576 A / T
gnomAD v2:
14-100364576-A-T
gnomAD v3:
14-99898239-A-T
gnomAD v4:
14-99898239-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.99898239A>T , CM000676.2:g.99898239A>T | GRCh38 |
| NC_000014.8:g.100364576A>T , CM000676.1:g.100364576A>T | GRCh37 |
| NC_000014.7:g.99434329A>T | NCBI36 |
| NG_052827.1:g.165541A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262233.11:c.834A>T MANE Select | ENSP00000262233.7:p.Ala278= | |
| ENST00000649352.1:c.909A>T | ENSP00000498100.1:p.Ala303= | |
| ENST00000262233.10:c.834A>T | ENSP00000262233.6:p.Ala278= | |
| ENST00000327921.13:c.798A>T | ENSP00000327384.9:p.Ala266= | |
| ENST00000334192.8:c.891A>T | ENSP00000334314.4:p.Ala297= | |
| ENST00000554386.1:c.7A>T | ||
| ENST00000554479.5:c.795A>T | ENSP00000451346.1:p.Ala265= | |
| ENST00000554553.5:c.60A>T | ENSP00000451706.1:p.Ala20= | |
| ENST00000555277.1:n.463A>T | ||
| ENST00000556714.5:c.741A>T | ENSP00000452089.1:p.Ala247= | |
| NM_001008707.1:c.891A>T | NP_001008707.1:p.Ala297= | |
| NM_004434.2:c.834A>T | NP_004425.2:p.Ala278= | |
| XM_005267397.1:c.891A>T | XP_005267454.1:p.Ala297= | |
| XM_005267398.3:c.852A>T | XP_005267455.1:p.Ala284= | |
| XM_005267399.3:c.909A>T | XP_005267456.2:p.Ala303= | |
| XM_005267400.3:c.795A>T | XP_005267457.1:p.Ala265= | |
| XM_011536540.1:c.852A>T | XP_011534842.1:p.Ala284= | |
| XM_011536541.1:c.798A>T | XP_011534843.1:p.Ala266= | |
| XM_011536542.1:c.909A>T | XP_011534844.1:p.Ala303= | |
| XM_005267399.4:c.909A>T | XP_005267456.2:p.Ala303= | |
| XM_005267400.4:c.795A>T | XP_005267457.1:p.Ala265= | |
| XM_011536540.2:c.852A>T | XP_011534842.1:p.Ala284= | |
| XM_011536542.3:c.909A>T | XP_011534844.1:p.Ala303= | |
| XM_017021074.2:c.834A>T | XP_016876563.1:p.Ala278= | |
| XM_024449507.1:c.270A>T | XP_024305275.1:p.Ala90= | |
| NM_001008707.2:c.891A>T | NP_001008707.1:p.Ala297= | |
| NM_001375411.1:c.795A>T | NP_001362340.1:p.Ala265= | |
| NM_001375412.1:c.834A>T | NP_001362341.1:p.Ala278= | |
| NM_004434.3:c.834A>T MANE Select | NP_004425.2:p.Ala278= |