Linked Data
ClinVar Variation Id:
194966
dbSNP Id:
rs794727228
gnomAD v2:
14-77745146-G-A
gnomAD v4:
14-77278803-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278803G>A , CM000676.2:g.77278803G>A | GRCh38 |
| NC_000014.8:g.77745146G>A , CM000676.1:g.77745146G>A | GRCh37 |
| NC_000014.7:g.76814899G>A | NCBI36 |
| NG_008897.1:g.47080C>T , LRG_844:g.47080C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.883C>T | ||
| ENST00000556394.2:c.1499C>T | ENSP00000451967.2:p.Pro500Leu | |
| ENST00000682128.1:c.259C>T | ENSP00000506976.1:n.259C>T | |
| ENST00000682247.1:c.1947C>T | ENSP00000507213.1:p.Pro649= | |
| ENST00000682395.1:n.2422C>T | ||
| ENST00000682459.1:n.1661C>T | ||
| ENST00000682467.1:c.1892-295C>T | ENSP00000508062.1:n.1892-295C>T | |
| ENST00000682615.1:n.312C>T | ||
| ENST00000682795.1:c.2105C>T | ENSP00000507574.1:p.Pro702Leu | |
| ENST00000682895.1:n.1674C>T | ||
| ENST00000682955.1:n.1532C>T | ||
| ENST00000683095.1:c.364C>T | ENSP00000508040.1:n.364C>T | |
| ENST00000683188.1:c.2219C>T | ||
| ENST00000683380.1:n.1622C>T | ||
| ENST00000683828.1:c.1667C>T | ||
| ENST00000683907.1:c.223C>T | ENSP00000507754.1:p.Arg75Cys | |
| ENST00000684172.1:c.334C>T | ENSP00000508391.1:n.334C>T | |
| ENST00000684259.1:n.3725C>T | ||
| ENST00000684538.1:n.1337C>T | ||
| ENST00000684549.1:n.1509C>T | ||
| ENST00000261534.9:c.1958C>T MANE Select | ENSP00000261534.4:p.Pro653Leu | |
| ENST00000261534.8:c.1958C>T | ENSP00000261534.4:p.Pro653Leu | |
| ENST00000452340.7:n.2934C>T | ||
| ENST00000554767.5:n.2744C>T | ||
| ENST00000555710.1:c.319C>T | ENSP00000451730.1:n.319C>T | |
| ENST00000556171.1:c.550C>T | ||
| ENST00000556394.1:c.88-295C>T | ||
| ENST00000556446.1:n.259C>T | ||
| ENST00000602717.5:c.173C>T | ENSP00000487704.1:p.Pro58Leu | |
| NM_013382.5:c.1958C>T , LRG_844t1:c.1958C>T | NP_037514.2:p.Pro653Leu | |
| XM_011536675.1:c.2147C>T | XP_011534977.1:p.Pro716Leu | |
| XM_011536676.1:c.1814C>T | XP_011534978.1:p.Pro605Leu | |
| XM_011536677.1:c.1688C>T | XP_011534979.1:p.Pro563Leu | |
| XM_011536679.1:c.1241C>T | XP_011534981.1:p.Pro414Leu | |
| XR_943416.1:n.2211C>T | ||
| XM_011536675.2:c.2147C>T | XP_011534977.1:p.Pro716Leu | |
| XM_011536676.2:c.1814C>T | XP_011534978.1:p.Pro605Leu | |
| XM_011536677.3:c.1688C>T | XP_011534979.1:p.Pro563Leu | |
| XR_001750279.1:n.2244C>T | ||
| XR_001750282.1:n.2897C>T | ||
| XR_943416.3:n.2209C>T | ||
| NM_013382.6:c.1958C>T | NP_037514.2:p.Pro653Leu | |
| NM_013382.7:c.1958C>T MANE Select | NP_037514.2:p.Pro653Leu |