Linked Data
ClinVar Variation Id:
2924042
ClinVar RCV Id:
RCV003785792
MyVariant Identifiers:
chr14:g.77753126G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77286783G>A , CM000676.2:g.77286783G>A | GRCh38 |
| NC_000014.8:g.77753126G>A , CM000676.1:g.77753126G>A | GRCh37 |
| NC_000014.7:g.76822879G>A | NCBI36 |
| NG_008897.1:g.39100C>T , LRG_844:g.39100C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.834C>T | ENSP00000451967.2:p.Pro278= | |
| ENST00000682247.1:c.1293C>T | ENSP00000507213.1:p.Pro431= | |
| ENST00000682382.1:c.865C>T | ||
| ENST00000682395.1:n.1471C>T | ||
| ENST00000682459.1:n.996C>T | ||
| ENST00000682467.1:c.1293C>T | ENSP00000508062.1:p.Pro431= | |
| ENST00000682706.1:n.70C>T | ||
| ENST00000682795.1:c.1293C>T | ENSP00000507574.1:p.Pro431= | |
| ENST00000682895.1:n.1009C>T | ||
| ENST00000682955.1:n.581C>T | ||
| ENST00000683188.1:c.1268C>T | ||
| ENST00000683328.1:c.286C>T | ENSP00000508096.1:n.286C>T | |
| ENST00000683380.1:n.957C>T | ||
| ENST00000683828.1:c.1002C>T | ||
| ENST00000684259.1:n.1144C>T | ||
| ENST00000684444.1:c.40C>T | ||
| ENST00000684549.1:n.844C>T | ||
| ENST00000261534.9:c.1293C>T MANE Select | ENSP00000261534.4:p.Pro431= | |
| ENST00000261534.8:c.1293C>T | ENSP00000261534.4:p.Pro431= | |
| ENST00000452340.7:n.1316C>T | ||
| ENST00000553880.5:n.164C>T | ||
| ENST00000554767.5:n.2079C>T | ||
| ENST00000554884.5:n.285C>T | ||
| ENST00000556404.1:n.427C>T | ||
| ENST00000556851.1:n.329C>T | ||
| ENST00000557675.5:n.383C>T | ||
| NM_013382.5:c.1293C>T , LRG_844t1:c.1293C>T | NP_037514.2:p.Pro431= | |
| XM_011536675.1:c.1293C>T | XP_011534977.1:p.Pro431= | |
| XM_011536676.1:c.960C>T | XP_011534978.1:p.Pro320= | |
| XM_011536677.1:c.834C>T | XP_011534979.1:p.Pro278= | |
| XM_011536678.1:c.1293C>T | XP_011534980.1:p.Pro431= | |
| XM_011536679.1:c.387C>T | XP_011534981.1:p.Pro129= | |
| XR_943416.1:n.1496C>T | ||
| XM_011536675.2:c.1293C>T | XP_011534977.1:p.Pro431= | |
| XM_011536676.2:c.960C>T | XP_011534978.1:p.Pro320= | |
| XM_011536677.3:c.834C>T | XP_011534979.1:p.Pro278= | |
| XR_001750279.1:n.1493C>T | ||
| XR_001750282.1:n.1946C>T | ||
| XR_943416.3:n.1494C>T | ||
| NM_013382.6:c.1293C>T | NP_037514.2:p.Pro431= | |
| NM_013382.7:c.1293C>T MANE Select | NP_037514.2:p.Pro431= |