Linked Data
ClinVar Variation Id:
1570777
ClinVar RCV Id:
RCV002205704
dbSNP Id:
rs750930174
ExAC:
14:77745100 T / G
gnomAD v2:
14-77745100-T-G
gnomAD v4:
14-77278757-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278757T>G , CM000676.2:g.77278757T>G | GRCh38 |
| NC_000014.8:g.77745100T>G , CM000676.1:g.77745100T>G | GRCh37 |
| NC_000014.7:g.76814853T>G | NCBI36 |
| NG_008897.1:g.47126A>C , LRG_844:g.47126A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.929A>C | ||
| ENST00000556394.2:c.1545A>C | ENSP00000451967.2:p.Pro515= | |
| ENST00000682128.1:c.305A>C | ENSP00000506976.1:n.305A>C | |
| ENST00000682247.1:c.1993A>C | ENSP00000507213.1:p.Ser665Arg | |
| ENST00000682395.1:n.2468A>C | ||
| ENST00000682459.1:n.1707A>C | ||
| ENST00000682467.1:c.1892-249A>C | ENSP00000508062.1:n.1892-249A>C | |
| ENST00000682615.1:n.358A>C | ||
| ENST00000682795.1:c.2151A>C | ENSP00000507574.1:p.Pro717= | |
| ENST00000682895.1:n.1720A>C | ||
| ENST00000682955.1:n.1578A>C | ||
| ENST00000683095.1:c.410A>C | ENSP00000508040.1:n.410A>C | |
| ENST00000683188.1:c.2265A>C | ||
| ENST00000683380.1:n.1668A>C | ||
| ENST00000683907.1:c.269A>C | ENSP00000507754.1:n.269A>C | |
| ENST00000684172.1:c.380A>C | ENSP00000508391.1:n.380A>C | |
| ENST00000684259.1:n.3771A>C | ||
| ENST00000684538.1:n.1383A>C | ||
| ENST00000684549.1:n.1555A>C | ||
| ENST00000261534.9:c.2004A>C MANE Select | ENSP00000261534.4:p.Pro668= | |
| ENST00000261534.8:c.2004A>C | ENSP00000261534.4:p.Pro668= | |
| ENST00000452340.7:n.2980A>C | ||
| ENST00000554767.5:n.2790A>C | ||
| ENST00000555710.1:c.365A>C | ENSP00000451730.1:n.365A>C | |
| ENST00000556394.1:c.88-249A>C | ||
| ENST00000556446.1:n.305A>C | ||
| ENST00000602717.5:c.219A>C | ENSP00000487704.1:p.Pro73= | |
| NM_013382.5:c.2004A>C , LRG_844t1:c.2004A>C | NP_037514.2:p.Pro668= | |
| XM_011536675.1:c.2193A>C | XP_011534977.1:p.Pro731= | |
| XM_011536676.1:c.1860A>C | XP_011534978.1:p.Pro620= | |
| XM_011536677.1:c.1734A>C | XP_011534979.1:p.Pro578= | |
| XM_011536679.1:c.1287A>C | XP_011534981.1:p.Pro429= | |
| XR_943416.1:n.2257A>C | ||
| XM_011536675.2:c.2193A>C | XP_011534977.1:p.Pro731= | |
| XM_011536676.2:c.1860A>C | XP_011534978.1:p.Pro620= | |
| XM_011536677.3:c.1734A>C | XP_011534979.1:p.Pro578= | |
| XR_001750279.1:n.2290A>C | ||
| XR_001750282.1:n.2943A>C | ||
| XR_943416.3:n.2255A>C | ||
| NM_013382.6:c.2004A>C | NP_037514.2:p.Pro668= | |
| NM_013382.7:c.2004A>C MANE Select | NP_037514.2:p.Pro668= |