Linked Data
ClinVar Variation Id:
2916958
ClinVar RCV Id:
RCV003619098
dbSNP Id:
rs145901607
gnomAD v2:
11-71146862-G-T
gnomAD v4:
11-71435816-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435816G>T , CM000673.2:g.71435816G>T | GRCh38 |
| NC_000011.9:g.71146862G>T , CM000673.1:g.71146862G>T | GRCh37 |
| NC_000011.8:g.70824510G>T | NCBI36 |
| NG_012655.2:g.17616C>A , LRG_340:g.17616C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.987C>A | ENSP00000435707.3:p.Pro329= | |
| ENST00000526780.6:c.987C>A | ENSP00000435668.2:p.Pro329= | |
| ENST00000527316.6:c.813C>A | ENSP00000435047.2:p.Pro271= | |
| ENST00000682708.1:c.1038C>A | ENSP00000506866.1:p.Pro346= | |
| ENST00000683287.1:c.1023C>A | ENSP00000507607.1:p.Pro341= | |
| ENST00000683714.1:c.995C>A | ENSP00000508207.1:p.Pro332Gln | |
| ENST00000684396.1:n.1027C>A | ||
| ENST00000685320.1:c.402C>A | ENSP00000509319.1:p.Pro134= | |
| ENST00000690257.1:c.891C>A | ENSP00000510750.1:p.Pro297= | |
| ENST00000355527.8:c.987C>A MANE Select | ENSP00000347717.4:p.Pro329= | |
| ENST00000355527.7:c.987C>A | ENSP00000347717.3:p.Pro329= | |
| ENST00000407721.6:c.987C>A | ENSP00000384739.2:p.Pro329= | |
| ENST00000525137.1:c.488C>A | ENSP00000435956.1:p.Pro163Gln | |
| ENST00000533800.5:c.237C>A | ENSP00000435011.1:p.Pro79= | |
| ENST00000534795.5:c.319+1996C>A | ||
| NM_001163817.1:c.987C>A | NP_001157289.1:p.Pro329= | |
| NM_001360.2:c.987C>A , LRG_340t1:c.987C>A | NP_001351.2:p.Pro329= | |
| XM_011544777.1:c.1121C>A | XP_011543079.1:p.Pro374Gln | |
| XM_011544777.2:c.1121C>A | XP_011543079.1:p.Pro374Gln | |
| NM_001163817.2:c.987C>A | NP_001157289.1:p.Pro329= | |
| NM_001360.3:c.987C>A MANE Select | NP_001351.2:p.Pro329= |