Linked Data
ClinVar Variation Id:
9760
ClinVar RCV Id:
RCV000088660
dbSNP Id:
rs104894955
ExAC:
X:47308837 G / A
gnomAD v2:
X-47308837-G-A
gnomAD v3:
X-47449438-G-A
gnomAD v4:
X-47449438-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47449438G>A , CM000685.2:g.47449438G>A | GRCh38 |
| NC_000023.10:g.47308837G>A , CM000685.1:g.47308837G>A | GRCh37 |
| NC_000023.9:g.47193781G>A | NCBI36 |
| NG_008238.1:g.38509C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684689.1:c.332C>T MANE Select | ENSP00000508254.1:p.Pro111Leu | |
| ENST00000313116.11:c.332C>T | ENSP00000315173.7:p.Pro111Leu | |
| ENST00000377065.8:c.332C>T | ENSP00000366265.4:p.Pro111Leu | |
| ENST00000432977.1:c.362C>T | ENSP00000390385.1:p.Pro121Leu | |
| ENST00000465311.1:n.485C>T | ||
| NM_007130.2:c.332C>T | NP_009061.1:p.Pro111Leu | |
| NM_153380.2:c.332C>T | NP_700359.1:p.Pro111Leu | |
| XM_005272665.3:c.332C>T | XP_005272722.1:p.Pro111Leu | |
| XM_005272666.3:c.332C>T | XP_005272723.1:p.Pro111Leu | |
| XM_005272668.3:c.74C>T | XP_005272725.1:p.Pro25Leu | |
| XM_005272669.3:c.74C>T | XP_005272726.1:p.Pro25Leu | |
| XM_006724550.2:c.434C>T | XP_006724613.1:p.Pro145Leu | |
| XM_006724554.2:c.362C>T | XP_006724617.1:p.Pro121Leu | |
| XM_006724555.2:c.362C>T | XP_006724618.1:p.Pro121Leu | |
| XM_006724556.2:c.338C>T | XP_006724619.1:p.Pro113Leu | |
| XM_006724557.2:c.332C>T | XP_006724620.1:p.Pro111Leu | |
| XM_006724558.2:c.74C>T | XP_006724621.1:p.Pro25Leu | |
| XM_011543979.1:c.458C>T | XP_011542281.1:p.Pro153Leu | |
| XM_011543980.1:c.458C>T | XP_011542282.1:p.Pro153Leu | |
| XM_011543981.1:c.458C>T | XP_011542283.1:p.Pro153Leu | |
| XM_011543982.1:c.74C>T | XP_011542284.1:p.Pro25Leu | |
| NM_001324139.1:c.74C>T | NP_001311068.1:p.Pro25Leu | |
| NM_001324140.1:c.332C>T | NP_001311069.1:p.Pro111Leu | |
| NM_001324141.1:c.74C>T | NP_001311070.1:p.Pro25Leu | |
| NM_001324142.1:c.338C>T | NP_001311071.1:p.Pro113Leu | |
| NM_001324143.1:c.74C>T | NP_001311072.1:p.Pro25Leu | |
| NM_001324144.1:c.332C>T | NP_001311073.1:p.Pro111Leu | |
| NM_001324145.1:c.74C>T | NP_001311074.1:p.Pro25Leu | |
| NM_001324147.1:c.332C>T | NP_001311076.1:p.Pro111Leu | |
| NM_001324148.1:c.338C>T | NP_001311077.1:p.Pro113Leu | |
| NM_001324149.1:c.74C>T | NP_001311078.1:p.Pro25Leu | |
| NM_001324150.1:c.332C>T | NP_001311079.1:p.Pro111Leu | |
| NM_001324151.1:c.362C>T | NP_001311080.1:p.Pro121Leu | |
| NM_001324152.1:c.74C>T | NP_001311081.1:p.Pro25Leu | |
| NM_001324153.1:c.362C>T | NP_001311082.1:p.Pro121Leu | |
| NM_001324154.1:c.434C>T | NP_001311083.1:p.Pro145Leu | |
| NM_001324155.1:c.458C>T | NP_001311084.1:p.Pro153Leu | |
| NM_001324156.1:c.302-72C>T | NP_001311085.1:n.302-72C>T | |
| NM_001324157.1:c.296-72C>T | NP_001311086.1:n.296-72C>T | |
| NM_007130.3:c.332C>T | NP_009061.1:p.Pro111Leu | |
| NM_153380.3:c.332C>T | NP_700359.1:p.Pro111Leu | |
| XM_006724550.3:c.434C>T | XP_006724613.1:p.Pro145Leu | |
| XM_006724555.3:c.362C>T | XP_006724618.1:p.Pro121Leu | |
| XM_017029810.2:c.434C>T | XP_016885299.1:p.Pro145Leu | |
| XM_017029811.2:c.434C>T | XP_016885300.1:p.Pro145Leu | |
| XM_017029812.1:c.434C>T | XP_016885301.1:p.Pro145Leu | |
| XM_017029813.1:c.434C>T | XP_016885302.1:p.Pro145Leu | |
| XM_017029814.2:c.434C>T | XP_016885303.1:p.Pro145Leu | |
| XM_017029815.1:c.434C>T | XP_016885304.1:p.Pro145Leu | |
| XM_017029816.1:c.362C>T | XP_016885305.1:p.Pro121Leu | |
| XM_017029817.1:c.332C>T | XP_016885306.1:p.Pro111Leu | |
| NM_001324139.2:c.74C>T | NP_001311068.1:p.Pro25Leu | |
| NM_001324140.2:c.332C>T | NP_001311069.1:p.Pro111Leu | |
| NM_001324141.2:c.74C>T | NP_001311070.1:p.Pro25Leu | |
| NM_001324142.2:c.338C>T | NP_001311071.1:p.Pro113Leu | |
| NM_001324143.2:c.74C>T | NP_001311072.1:p.Pro25Leu | |
| NM_001324144.2:c.332C>T MANE Select | NP_001311073.1:p.Pro111Leu | |
| NM_001324145.2:c.74C>T | NP_001311074.1:p.Pro25Leu | |
| NM_001324147.2:c.332C>T | NP_001311076.1:p.Pro111Leu | |
| NM_001324148.2:c.338C>T | NP_001311077.1:p.Pro113Leu | |
| NM_001324149.2:c.74C>T | NP_001311078.1:p.Pro25Leu | |
| NM_001324150.2:c.332C>T | NP_001311079.1:p.Pro111Leu | |
| NM_001324151.2:c.362C>T | NP_001311080.1:p.Pro121Leu | |
| NM_001324152.2:c.74C>T | NP_001311081.1:p.Pro25Leu | |
| NM_001324153.2:c.362C>T | NP_001311082.1:p.Pro121Leu | |
| NM_007130.4:c.332C>T | NP_009061.1:p.Pro111Leu |