Linked Data
ClinVar Variation Id:
2036241
ClinVar RCV Id:
RCV002894813
MyVariant Identifiers:
chr14:g.100374001G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.99907664G>A , CM000676.2:g.99907664G>A | GRCh38 |
| NC_000014.8:g.100374001G>A , CM000676.1:g.100374001G>A | GRCh37 |
| NC_000014.7:g.99443754G>A | NCBI36 |
| NG_052827.1:g.174966G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262233.11:c.1035G>A MANE Select | ENSP00000262233.7:p.Val345= | |
| ENST00000649352.1:c.1110G>A | ENSP00000498100.1:p.Val370= | |
| ENST00000262233.10:c.1035G>A | ENSP00000262233.6:p.Val345= | |
| ENST00000327921.13:c.999G>A | ENSP00000327384.9:p.Val333= | |
| ENST00000334192.8:c.1092G>A | ENSP00000334314.4:p.Val364= | |
| ENST00000554111.1:n.793G>A | ||
| ENST00000554386.1:c.182-1681G>A | ||
| ENST00000554479.5:c.996G>A | ENSP00000451346.1:p.Val332= | |
| ENST00000554553.5:c.261G>A | ENSP00000451706.1:p.Val87= | |
| ENST00000555812.5:n.205G>A | ||
| NM_001008707.1:c.1092G>A | NP_001008707.1:p.Val364= | |
| NM_004434.2:c.1035G>A | NP_004425.2:p.Val345= | |
| XM_005267397.1:c.1092G>A | XP_005267454.1:p.Val364= | |
| XM_005267398.3:c.1053G>A | XP_005267455.1:p.Val351= | |
| XM_005267399.3:c.1110G>A | XP_005267456.2:p.Val370= | |
| XM_005267400.3:c.996G>A | XP_005267457.1:p.Val332= | |
| XM_011536540.1:c.1053G>A | XP_011534842.1:p.Val351= | |
| XM_011536541.1:c.999G>A | XP_011534843.1:p.Val333= | |
| XM_011536542.1:c.1110G>A | XP_011534844.1:p.Val370= | |
| XM_005267399.4:c.1110G>A | XP_005267456.2:p.Val370= | |
| XM_005267400.4:c.996G>A | XP_005267457.1:p.Val332= | |
| XM_011536540.2:c.1053G>A | XP_011534842.1:p.Val351= | |
| XM_011536542.3:c.1110G>A | XP_011534844.1:p.Val370= | |
| XM_017021074.2:c.1035G>A | XP_016876563.1:p.Val345= | |
| XM_024449507.1:c.471G>A | XP_024305275.1:p.Val157= | |
| NM_001008707.2:c.1092G>A | NP_001008707.1:p.Val364= | |
| NM_001375411.1:c.996G>A | NP_001362340.1:p.Val332= | |
| NM_001375412.1:c.1035G>A | NP_001362341.1:p.Val345= | |
| NM_004434.3:c.1035G>A MANE Select | NP_004425.2:p.Val345= |