Linked Data
ClinVar Variation Id:
2949522
ClinVar RCV Id:
RCV003804688
gnomAD v4:
14-77278467-A-G
MyVariant Identifiers:
chr14:g.77744810A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278467A>G , CM000676.2:g.77278467A>G | GRCh38 |
| NC_000014.8:g.77744810A>G , CM000676.1:g.77744810A>G | GRCh37 |
| NC_000014.7:g.76814563A>G | NCBI36 |
| NG_008897.1:g.47416T>C , LRG_844:g.47416T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.999T>C | ||
| ENST00000556394.2:c.1615T>C | ENSP00000451967.2:p.Leu539= | |
| ENST00000682247.1:c.2063T>C | ENSP00000507213.1:p.Leu688Pro | |
| ENST00000682395.1:n.2538T>C | ||
| ENST00000682459.1:n.1777T>C | ||
| ENST00000682467.1:c.1933T>C | ENSP00000508062.1:p.Leu645= | |
| ENST00000682795.1:c.2221T>C | ENSP00000507574.1:p.Leu741= | |
| ENST00000682895.1:n.1790T>C | ||
| ENST00000682955.1:n.1648T>C | ||
| ENST00000683188.1:c.2335T>C | ||
| ENST00000683380.1:n.1738T>C | ||
| ENST00000683907.1:c.339T>C | ENSP00000507754.1:n.339T>C | |
| ENST00000684259.1:n.3841T>C | ||
| ENST00000684538.1:n.1453T>C | ||
| ENST00000684549.1:n.1625T>C | ||
| ENST00000261534.9:c.2074T>C MANE Select | ENSP00000261534.4:p.Leu692= | |
| ENST00000261534.8:c.2074T>C | ENSP00000261534.4:p.Leu692= | |
| ENST00000452340.7:n.3050T>C | ||
| ENST00000554767.5:n.2860T>C | ||
| ENST00000555710.1:c.435T>C | ENSP00000451730.1:n.435T>C | |
| ENST00000556394.1:c.129T>C | ||
| ENST00000556446.1:n.375T>C | ||
| ENST00000602717.5:c.289T>C | ENSP00000487704.1:p.Leu97= | |
| NM_013382.5:c.2074T>C , LRG_844t1:c.2074T>C | NP_037514.2:p.Leu692= | |
| XM_011536675.1:c.2263T>C | XP_011534977.1:p.Leu755= | |
| XM_011536676.1:c.1930T>C | XP_011534978.1:p.Leu644= | |
| XM_011536677.1:c.1804T>C | XP_011534979.1:p.Leu602= | |
| XM_011536679.1:c.1357T>C | XP_011534981.1:p.Leu453= | |
| XR_943416.1:n.2327T>C | ||
| XM_011536675.2:c.2263T>C | XP_011534977.1:p.Leu755= | |
| XM_011536676.2:c.1930T>C | XP_011534978.1:p.Leu644= | |
| XM_011536677.3:c.1804T>C | XP_011534979.1:p.Leu602= | |
| XR_001750279.1:n.2360T>C | ||
| XR_001750282.1:n.3013T>C | ||
| XR_943416.3:n.2325T>C | ||
| NM_013382.6:c.2074T>C | NP_037514.2:p.Leu692= | |
| NM_013382.7:c.2074T>C MANE Select | NP_037514.2:p.Leu692= |