Linked Data
ClinVar Variation Id:
1152855
ClinVar RCV Id:
RCV001494328
dbSNP Id:
rs746369367
ExAC:
14:77744838 G / A
gnomAD v2:
14-77744838-G-A
gnomAD v4:
14-77278495-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278495G>A , CM000676.2:g.77278495G>A | GRCh38 |
| NC_000014.8:g.77744838G>A , CM000676.1:g.77744838G>A | GRCh37 |
| NC_000014.7:g.76814591G>A | NCBI36 |
| NG_008897.1:g.47388C>T , LRG_844:g.47388C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.971C>T | ||
| ENST00000556394.2:c.1587C>T | ENSP00000451967.2:p.Asp529= | |
| ENST00000682247.1:c.2035C>T | ENSP00000507213.1:p.His679Tyr | |
| ENST00000682395.1:n.2510C>T | ||
| ENST00000682459.1:n.1749C>T | ||
| ENST00000682467.1:c.1905C>T | ENSP00000508062.1:p.Asp635= | |
| ENST00000682795.1:c.2193C>T | ENSP00000507574.1:p.Asp731= | |
| ENST00000682895.1:n.1762C>T | ||
| ENST00000682955.1:n.1620C>T | ||
| ENST00000683188.1:c.2307C>T | ||
| ENST00000683380.1:n.1710C>T | ||
| ENST00000683907.1:c.311C>T | ENSP00000507754.1:n.311C>T | |
| ENST00000684259.1:n.3813C>T | ||
| ENST00000684538.1:n.1425C>T | ||
| ENST00000684549.1:n.1597C>T | ||
| ENST00000261534.9:c.2046C>T MANE Select | ENSP00000261534.4:p.Asp682= | |
| ENST00000261534.8:c.2046C>T | ENSP00000261534.4:p.Asp682= | |
| ENST00000452340.7:n.3022C>T | ||
| ENST00000554767.5:n.2832C>T | ||
| ENST00000555710.1:c.407C>T | ENSP00000451730.1:n.407C>T | |
| ENST00000556394.1:c.101C>T | ||
| ENST00000556446.1:n.347C>T | ||
| ENST00000602717.5:c.261C>T | ENSP00000487704.1:p.Asp87= | |
| NM_013382.5:c.2046C>T , LRG_844t1:c.2046C>T | NP_037514.2:p.Asp682= | |
| XM_011536675.1:c.2235C>T | XP_011534977.1:p.Asp745= | |
| XM_011536676.1:c.1902C>T | XP_011534978.1:p.Asp634= | |
| XM_011536677.1:c.1776C>T | XP_011534979.1:p.Asp592= | |
| XM_011536679.1:c.1329C>T | XP_011534981.1:p.Asp443= | |
| XR_943416.1:n.2299C>T | ||
| XM_011536675.2:c.2235C>T | XP_011534977.1:p.Asp745= | |
| XM_011536676.2:c.1902C>T | XP_011534978.1:p.Asp634= | |
| XM_011536677.3:c.1776C>T | XP_011534979.1:p.Asp592= | |
| XR_001750279.1:n.2332C>T | ||
| XR_001750282.1:n.2985C>T | ||
| XR_943416.3:n.2297C>T | ||
| NM_013382.6:c.2046C>T | NP_037514.2:p.Asp682= | |
| NM_013382.7:c.2046C>T MANE Select | NP_037514.2:p.Asp682= |