Linked Data
ClinVar Variation Id:
2948542
ClinVar RCV Id:
RCV003809316
dbSNP Id:
rs147638016
gnomAD v2:
14-73673133-C-T
gnomAD v4:
14-73206425-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73206425C>T , CM000676.2:g.73206425C>T | GRCh38 |
| NC_000014.8:g.73673133C>T , CM000676.1:g.73673133C>T | GRCh37 |
| NC_000014.7:g.72742886C>T | NCBI36 |
| NG_007386.2:g.74955C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553599.6:c.896C>T | ENSP00000452477.2:p.Pro299Leu | |
| ENST00000554131.6:c.908C>T | ENSP00000451915.2:p.Pro303Leu | |
| ENST00000554995.2:n.1658C>T | ||
| ENST00000555386.6:c.896C>T | ENSP00000450845.1:p.Pro299Leu | |
| ENST00000556066.2:n.1334C>T | ||
| ENST00000556951.6:c.896C>T | ENSP00000450551.2:p.Pro299Leu | |
| ENST00000557293.6:c.788C>T | ENSP00000451880.2:p.Pro263Leu | |
| ENST00000559361.6:c.*852C>T | ENSP00000454156.1:n.*852C>T | |
| ENST00000697912.1:c.896C>T | ENSP00000513477.1:p.Pro299Leu | |
| ENST00000697913.1:n.1162C>T | ||
| ENST00000700265.1:c.896C>T | ENSP00000514901.1:p.Pro299Leu | |
| ENST00000700266.1:c.*1120C>T | ENSP00000514902.1:n.*1120C>T | |
| ENST00000700267.1:c.908C>T | ENSP00000514903.1:p.Pro303Leu | |
| ENST00000700268.1:c.908C>T | ENSP00000514904.1:p.Pro303Leu | |
| ENST00000700269.1:c.908C>T | ENSP00000514905.1:p.Pro303Leu | |
| ENST00000700270.1:n.1164C>T | ||
| ENST00000700271.1:c.896C>T | ENSP00000514906.1:p.Pro299Leu | |
| ENST00000700272.1:c.*852C>T | ENSP00000514907.1:n.*852C>T | |
| ENST00000700273.1:c.896C>T | ENSP00000514908.1:p.Pro299Leu | |
| ENST00000700302.1:c.908C>T | ENSP00000514929.1:p.Pro303Leu | |
| ENST00000700303.1:c.*570C>T | ENSP00000514930.1:n.*570C>T | |
| ENST00000700304.1:c.*852C>T | ENSP00000514931.1:n.*852C>T | |
| ENST00000700305.1:c.*466C>T | ENSP00000514932.1:n.*466C>T | |
| ENST00000700306.1:c.908C>T | ENSP00000514933.1:p.Pro303Leu | |
| ENST00000700307.1:c.809C>T | ENSP00000514934.1:p.Pro270Leu | |
| ENST00000700308.1:c.*852C>T | ENSP00000514935.1:n.*852C>T | |
| ENST00000700309.1:c.*997C>T | ENSP00000514936.1:n.*997C>T | |
| ENST00000700310.1:c.797C>T | ENSP00000514937.1:p.Pro266Leu | |
| ENST00000700311.1:c.908C>T | ENSP00000514938.1:p.Pro303Leu | |
| ENST00000700312.1:c.659C>T | ENSP00000514939.1:p.Pro220Leu | |
| ENST00000700313.1:c.896C>T | ENSP00000514940.1:p.Pro299Leu | |
| ENST00000700314.1:c.*847C>T | ENSP00000514941.1:n.*847C>T | |
| ENST00000700315.1:c.*466C>T | ENSP00000514942.1:n.*466C>T | |
| ENST00000700316.1:c.*688C>T | ENSP00000514943.1:n.*688C>T | |
| ENST00000700317.1:c.908C>T | ENSP00000514944.1:p.Pro303Leu | |
| ENST00000700318.1:c.*570C>T | ENSP00000514945.1:n.*570C>T | |
| ENST00000700319.1:c.*348C>T | ENSP00000514946.1:n.*348C>T | |
| ENST00000700320.1:c.935C>T | ENSP00000514947.1:p.Pro312Leu | |
| ENST00000700321.1:c.908C>T | ENSP00000514948.1:p.Pro303Leu | |
| ENST00000700322.1:c.896C>T | ENSP00000514949.1:p.Pro299Leu | |
| ENST00000700323.1:c.908C>T | ENSP00000514950.1:p.Pro303Leu | |
| ENST00000700324.1:c.896C>T | ENSP00000514951.1:p.Pro299Leu | |
| ENST00000700375.1:c.908C>T | ENSP00000514966.1:p.Pro303Leu | |
| ENST00000700377.1:c.*376C>T | ENSP00000514967.1:n.*376C>T | |
| ENST00000700378.1:c.908C>T | ENSP00000514968.1:p.Pro303Leu | |
| ENST00000700379.1:n.1306C>T | ||
| ENST00000700389.1:c.896C>T | ENSP00000514970.1:p.Pro299Leu | |
| ENST00000700390.1:n.2619C>T | ||
| ENST00000700391.1:n.119C>T | ||
| ENST00000700404.1:n.1907C>T | ||
| ENST00000700433.1:n.1159C>T | ||
| ENST00000700434.1:n.1161C>T | ||
| ENST00000700435.1:n.1043C>T | ||
| ENST00000700436.1:c.908C>T | ENSP00000514987.1:p.Pro303Leu | |
| ENST00000700437.1:c.659C>T | ENSP00000514988.1:p.Pro220Leu | |
| ENST00000700467.1:n.1165C>T | ||
| ENST00000700468.1:c.797C>T | ENSP00000515001.1:p.Pro266Leu | |
| ENST00000700469.1:c.896C>T | ENSP00000515002.1:p.Pro299Leu | |
| ENST00000324501.10:c.908C>T MANE Select | ENSP00000326366.5:p.Pro303Leu | |
| ENST00000324501.9:c.908C>T | ENSP00000326366.5:p.Pro303Leu | |
| ENST00000357710.8:c.896C>T | ENSP00000350342.4:p.Pro299Leu | |
| ENST00000394164.5:c.896C>T | ENSP00000377719.1:p.Pro299Leu | |
| ENST00000406768.1:c.632C>T | ENSP00000385948.1:p.Pro211Leu | |
| ENST00000553855.5:c.908C>T | ENSP00000452242.1:p.Pro303Leu | |
| ENST00000554995.1:n.460C>T | ||
| ENST00000555386.5:c.896C>T | ENSP00000450845.1:p.Pro299Leu | |
| ENST00000555867.1:n.273C>T | ||
| ENST00000557511.5:c.908C>T | ENSP00000451429.1:p.Pro303Leu | |
| NM_000021.3:c.908C>T | NP_000012.1:p.Pro303Leu | |
| NM_007318.2:c.896C>T | NP_015557.2:p.Pro299Leu | |
| XM_005267864.1:c.908C>T | XP_005267921.1:p.Pro303Leu | |
| XM_005267866.1:c.896C>T | XP_005267923.1:p.Pro299Leu | |
| XM_011536971.1:c.908C>T | XP_011535273.1:p.Pro303Leu | |
| XM_011536972.1:c.908C>T | XP_011535274.1:p.Pro303Leu | |
| XM_011536973.1:c.896C>T | XP_011535275.1:p.Pro299Leu | |
| XM_011536974.1:c.896C>T | XP_011535276.1:p.Pro299Leu | |
| XM_005267864.3:c.908C>T | XP_005267921.1:p.Pro303Leu | |
| XM_005267866.2:c.896C>T | XP_005267923.1:p.Pro299Leu | |
| XM_011536972.2:c.908C>T | XP_011535274.1:p.Pro303Leu | |
| XM_011536973.2:c.896C>T | XP_011535275.1:p.Pro299Leu | |
| XM_011536974.2:c.896C>T | XP_011535276.1:p.Pro299Leu | |
| NM_000021.4:c.908C>T MANE Select | NP_000012.1:p.Pro303Leu | |
| NM_007318.3:c.896C>T | NP_015557.2:p.Pro299Leu |