Linked Data
ClinVar Variation Id:
290528
dbSNP Id:
rs776866129
ExAC:
14:77762543 G / A
gnomAD v2:
14-77762543-G-A
gnomAD v4:
14-77296200-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77296200G>A , CM000676.2:g.77296200G>A | GRCh38 |
| NC_000014.8:g.77762543G>A , CM000676.1:g.77762543G>A | GRCh37 |
| NC_000014.7:g.76832296G>A | NCBI36 |
| NG_008897.1:g.29683C>T , LRG_844:g.29683C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.621C>T | ENSP00000451967.2:p.His207= | |
| ENST00000557289.2:c.378C>T | ||
| ENST00000682247.1:c.1080C>T | ENSP00000507213.1:p.His360= | |
| ENST00000682382.1:c.652C>T | ||
| ENST00000682395.1:n.809C>T | ||
| ENST00000682459.1:n.744C>T | ||
| ENST00000682467.1:c.1080C>T | ENSP00000508062.1:p.His360= | |
| ENST00000682795.1:c.1080C>T | ENSP00000507574.1:p.His360= | |
| ENST00000682895.1:n.796C>T | ||
| ENST00000682955.1:n.368C>T | ||
| ENST00000683188.1:c.606C>T | ||
| ENST00000683285.1:c.74C>T | ||
| ENST00000683300.1:c.183C>T | ENSP00000507630.1:p.His61= | |
| ENST00000683328.1:c.110-4820C>T | ENSP00000508096.1:n.110-4820C>T | |
| ENST00000683380.1:n.744C>T | ||
| ENST00000683721.1:n.104C>T | ||
| ENST00000683828.1:c.789C>T | ||
| ENST00000684259.1:n.931C>T | ||
| ENST00000684528.1:c.74C>T | ||
| ENST00000684549.1:n.631C>T | ||
| ENST00000684554.1:c.317C>T | ||
| ENST00000261534.9:c.1080C>T MANE Select | ENSP00000261534.4:p.His360= | |
| ENST00000261534.8:c.1080C>T | ENSP00000261534.4:p.His360= | |
| ENST00000452340.7:n.1103C>T | ||
| ENST00000554767.5:n.1866C>T | ||
| ENST00000557289.1:c.319C>T | ENSP00000451115.1:n.319C>T | |
| ENST00000557675.5:n.170C>T | ||
| NM_013382.5:c.1080C>T , LRG_844t1:c.1080C>T | NP_037514.2:p.His360= | |
| XM_011536675.1:c.1080C>T | XP_011534977.1:p.His360= | |
| XM_011536676.1:c.747C>T | XP_011534978.1:p.His249= | |
| XM_011536677.1:c.621C>T | XP_011534979.1:p.His207= | |
| XM_011536678.1:c.1080C>T | XP_011534980.1:p.His360= | |
| XM_011536679.1:c.174C>T | XP_011534981.1:p.His58= | |
| XM_011536680.1:c.1080C>T | XP_011534982.1:p.His360= | |
| XR_943416.1:n.1283C>T | ||
| XM_011536675.2:c.1080C>T | XP_011534977.1:p.His360= | |
| XM_011536676.2:c.747C>T | XP_011534978.1:p.His249= | |
| XM_011536677.3:c.621C>T | XP_011534979.1:p.His207= | |
| XR_001750279.1:n.1280C>T | ||
| XR_001750282.1:n.1284C>T | ||
| XR_943416.3:n.1281C>T | ||
| NM_013382.6:c.1080C>T | NP_037514.2:p.His360= | |
| NM_013382.7:c.1080C>T MANE Select | NP_037514.2:p.His360= |