Linked Data
ClinVar Variation Id:
254714
ClinVar RCV Id:
RCV000250323
RCV001682946
RCV001789237
RCV001789238
RCV001789239
RCV001789240
RCV001513933
RCV001789241
dbSNP Id:
rs165932
ExAC:
14:73664853 G / T
gnomAD v2:
14-73664853-G-T
gnomAD v3:
14-73198145-G-T
gnomAD v4:
14-73198145-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73198145G>T , CM000676.2:g.73198145G>T | GRCh38 |
| NC_000014.8:g.73664853G>T , CM000676.1:g.73664853G>T | GRCh37 |
| NC_000014.7:g.72734606G>T | NCBI36 |
| NG_007386.2:g.66675G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553599.6:c.856+16G>T | ENSP00000452477.2:n.856+16G>T | |
| ENST00000554131.6:c.868+16G>T | ENSP00000451915.2:n.868+16G>T | |
| ENST00000554995.2:n.1618+16G>T | ||
| ENST00000555386.6:c.856+16G>T | ENSP00000450845.1:n.856+16G>T | |
| ENST00000556066.2:n.1294+16G>T | ||
| ENST00000556951.6:c.856+16G>T | ENSP00000450551.2:n.856+16G>T | |
| ENST00000557293.6:c.748+16G>T | ENSP00000451880.2:n.748+16G>T | |
| ENST00000559361.6:c.*812+16G>T | ENSP00000454156.1:n.*812+16G>T | |
| ENST00000697912.1:c.856+16G>T | ENSP00000513477.1:n.856+16G>T | |
| ENST00000697913.1:n.1122+16G>T | ||
| ENST00000700265.1:c.856+16G>T | ENSP00000514901.1:n.856+16G>T | |
| ENST00000700266.1:c.*1080+16G>T | ENSP00000514902.1:n.*1080+16G>T | |
| ENST00000700267.1:c.868+16G>T | ENSP00000514903.1:n.868+16G>T | |
| ENST00000700268.1:c.868+16G>T | ENSP00000514904.1:n.868+16G>T | |
| ENST00000700269.1:c.868+16G>T | ENSP00000514905.1:n.868+16G>T | |
| ENST00000700270.1:n.1124+16G>T | ||
| ENST00000700271.1:c.856+16G>T | ENSP00000514906.1:n.856+16G>T | |
| ENST00000700272.1:c.*812+16G>T | ENSP00000514907.1:n.*812+16G>T | |
| ENST00000700273.1:c.856+16G>T | ENSP00000514908.1:n.856+16G>T | |
| ENST00000700302.1:c.868+16G>T | ENSP00000514929.1:n.868+16G>T | |
| ENST00000700303.1:c.*530+16G>T | ENSP00000514930.1:n.*530+16G>T | |
| ENST00000700304.1:c.*812+16G>T | ENSP00000514931.1:n.*812+16G>T | |
| ENST00000700305.1:c.*426+16G>T | ENSP00000514932.1:n.*426+16G>T | |
| ENST00000700306.1:c.868+16G>T | ENSP00000514933.1:n.868+16G>T | |
| ENST00000700307.1:c.769+5281G>T | ENSP00000514934.1:n.769+5281G>T | |
| ENST00000700308.1:c.*812+16G>T | ENSP00000514935.1:n.*812+16G>T | |
| ENST00000700309.1:c.*957+16G>T | ENSP00000514936.1:n.*957+16G>T | |
| ENST00000700310.1:c.757+5281G>T | ENSP00000514937.1:n.757+5281G>T | |
| ENST00000700311.1:c.868+16G>T | ENSP00000514938.1:n.868+16G>T | |
| ENST00000700312.1:c.619+16G>T | ENSP00000514939.1:n.619+16G>T | |
| ENST00000700313.1:c.856+16G>T | ENSP00000514940.1:n.856+16G>T | |
| ENST00000700314.1:c.*807+16G>T | ENSP00000514941.1:n.*807+16G>T | |
| ENST00000700315.1:c.*426+16G>T | ENSP00000514942.1:n.*426+16G>T | |
| ENST00000700316.1:c.*648+16G>T | ENSP00000514943.1:n.*648+16G>T | |
| ENST00000700317.1:c.868+16G>T | ENSP00000514944.1:n.868+16G>T | |
| ENST00000700318.1:c.*530+16G>T | ENSP00000514945.1:n.*530+16G>T | |
| ENST00000700319.1:c.*308+16G>T | ENSP00000514946.1:n.*308+16G>T | |
| ENST00000700320.1:c.895+16G>T | ENSP00000514947.1:n.895+16G>T | |
| ENST00000700321.1:c.868+16G>T | ENSP00000514948.1:n.868+16G>T | |
| ENST00000700322.1:c.856+16G>T | ENSP00000514949.1:n.856+16G>T | |
| ENST00000700323.1:c.868+16G>T | ENSP00000514950.1:n.868+16G>T | |
| ENST00000700324.1:c.856+16G>T | ENSP00000514951.1:n.856+16G>T | |
| ENST00000700375.1:c.868+16G>T | ENSP00000514966.1:n.868+16G>T | |
| ENST00000700377.1:c.*336+16G>T | ENSP00000514967.1:n.*336+16G>T | |
| ENST00000700378.1:c.868+16G>T | ENSP00000514968.1:n.868+16G>T | |
| ENST00000700379.1:n.1266+16G>T | ||
| ENST00000700389.1:c.856+16G>T | ENSP00000514970.1:n.856+16G>T | |
| ENST00000700390.1:n.2579+16G>T | ||
| ENST00000700404.1:n.1867+16G>T | ||
| ENST00000700433.1:n.1119+16G>T | ||
| ENST00000700434.1:n.1121+16G>T | ||
| ENST00000700435.1:n.1003+16G>T | ||
| ENST00000700436.1:c.868+16G>T | ENSP00000514987.1:n.868+16G>T | |
| ENST00000700437.1:c.619+16G>T | ENSP00000514988.1:n.619+16G>T | |
| ENST00000700467.1:n.1125+16G>T | ||
| ENST00000700468.1:c.757+5281G>T | ENSP00000515001.1:n.757+5281G>T | |
| ENST00000700469.1:c.856+16G>T | ENSP00000515002.1:n.856+16G>T | |
| ENST00000324501.10:c.868+16G>T MANE Select | ENSP00000326366.5:n.868+16G>T | |
| ENST00000324501.9:c.868+16G>T | ENSP00000326366.5:n.868+16G>T | |
| ENST00000357710.8:c.856+16G>T | ENSP00000350342.4:n.856+16G>T | |
| ENST00000394164.5:c.856+16G>T | ENSP00000377719.1:n.856+16G>T | |
| ENST00000406768.1:c.592+16G>T | ENSP00000385948.1:n.592+16G>T | |
| ENST00000553855.5:c.868+16G>T | ENSP00000452242.1:n.868+16G>T | |
| ENST00000554995.1:n.420+16G>T | ||
| ENST00000555386.5:c.856+16G>T | ENSP00000450845.1:n.856+16G>T | |
| ENST00000557511.5:c.868+16G>T | ENSP00000451429.1:n.868+16G>T | |
| NM_000021.3:c.868+16G>T | NP_000012.1:n.868+16G>T | |
| NM_007318.2:c.856+16G>T | NP_015557.2:n.856+16G>T | |
| XM_005267864.1:c.868+16G>T | XP_005267921.1:n.868+16G>T | |
| XM_005267866.1:c.856+16G>T | XP_005267923.1:n.856+16G>T | |
| XM_011536971.1:c.868+16G>T | XP_011535273.1:n.868+16G>T | |
| XM_011536972.1:c.868+16G>T | XP_011535274.1:n.868+16G>T | |
| XM_011536973.1:c.856+16G>T | XP_011535275.1:n.856+16G>T | |
| XM_011536974.1:c.856+16G>T | XP_011535276.1:n.856+16G>T | |
| XM_005267864.3:c.868+16G>T | XP_005267921.1:n.868+16G>T | |
| XM_005267866.2:c.856+16G>T | XP_005267923.1:n.856+16G>T | |
| XM_011536972.2:c.868+16G>T | XP_011535274.1:n.868+16G>T | |
| XM_011536973.2:c.856+16G>T | XP_011535275.1:n.856+16G>T | |
| XM_011536974.2:c.856+16G>T | XP_011535276.1:n.856+16G>T | |
| NM_000021.4:c.868+16G>T MANE Select | NP_000012.1:n.868+16G>T | |
| NM_007318.3:c.856+16G>T | NP_015557.2:n.856+16G>T |