Linked Data
ClinVar Variation Id:
43305
ClinVar RCV Id:
RCV000036210
RCV000277461
RCV000312785
RCV000369786
RCV000669735
RCV000963284
RCV001831642
dbSNP Id:
rs142293185
ExAC:
11:76919484 G / A
gnomAD v2:
11-76919484-G-A
gnomAD v3:
11-77208439-G-A
gnomAD v4:
11-77208439-G-A
PubMed:
PMID:15121790
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77208439G>A , CM000673.2:g.77208439G>A | GRCh38 |
| NC_000011.9:g.76919484G>A , CM000673.1:g.76919484G>A | GRCh37 |
| NC_000011.8:g.76597132G>A | NCBI36 |
| NG_009086.1:g.85175G>A | |
| NG_009086.2:g.85194G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.5866G>A MANE Select | ENSP00000386331.3:p.Val1956Ile | |
| ENST00000670577.1:c.3693G>A | ||
| ENST00000409619.6:c.5719G>A | ENSP00000386635.2:p.Val1907Ile | |
| ENST00000409709.7:c.5866G>A | ENSP00000386331.3:p.Val1956Ile | |
| ENST00000458169.2:c.3292G>A | ENSP00000417017.2:p.Val1098Ile | |
| ENST00000458637.6:c.5752G>A | ENSP00000392185.2:p.Val1918Ile | |
| ENST00000481328.7:n.3402G>A | ||
| ENST00000605744.1:n.780G>A | ||
| NM_000260.3:c.5866G>A | NP_000251.3:p.Val1956Ile | |
| NM_001127180.1:c.5752G>A | NP_001120652.1:p.Val1918Ile | |
| XM_005274012.2:c.5749G>A | XP_005274069.1:p.Val1917Ile | |
| XM_006718558.2:c.5857G>A | XP_006718621.1:p.Val1953Ile | |
| XM_006718559.2:c.5752G>A | XP_006718622.1:p.Val1918Ile | |
| XM_006718560.2:c.5749G>A | XP_006718623.1:p.Val1917Ile | |
| XM_006718561.2:c.5752G>A | XP_006718624.1:p.Val1918Ile | |
| XM_011545044.1:c.5866G>A | XP_011543346.1:p.Val1956Ile | |
| XM_011545045.1:c.5860G>A | XP_011543347.1:p.Val1954Ile | |
| XM_011545046.1:c.5833G>A | XP_011543348.1:p.Val1945Ile | |
| XM_011545047.1:c.5770G>A | XP_011543349.1:p.Val1924Ile | |
| XM_011545048.1:c.5641G>A | XP_011543350.1:p.Val1881Ile | |
| XM_011545049.1:c.5629G>A | XP_011543351.1:p.Val1877Ile | |
| XM_011545050.1:c.5602G>A | XP_011543352.1:p.Val1868Ile | |
| XM_011545051.1:c.5866G>A | XP_011543353.1:p.Val1956Ile | |
| XR_949938.1:n.6186G>A | ||
| XR_949941.1:n.6186G>A | ||
| XM_011545044.2:c.5866G>A | XP_011543346.1:p.Val1956Ile | |
| XM_011545046.2:c.5956G>A | XP_011543348.2:p.Val1986Ile | |
| XM_011545050.2:c.5602G>A | XP_011543352.1:p.Val1868Ile | |
| XM_017017778.1:c.5950G>A | XP_016873267.1:p.Val1984Ile | |
| XM_017017779.1:c.5947G>A | XP_016873268.1:p.Val1983Ile | |
| XM_017017780.1:c.5956G>A | XP_016873269.1:p.Val1986Ile | |
| XM_017017781.1:c.5860G>A | XP_016873270.1:p.Val1954Ile | |
| XM_017017782.1:c.5842G>A | XP_016873271.1:p.Val1948Ile | |
| XM_017017783.1:c.5839G>A | XP_016873272.1:p.Val1947Ile | |
| XM_017017784.1:c.5839G>A | XP_016873273.1:p.Val1947Ile | |
| XM_017017785.1:c.5719G>A | XP_016873274.1:p.Val1907Ile | |
| XM_017017786.1:c.5956G>A | XP_016873275.1:p.Val1986Ile | |
| XM_017017788.1:c.5842G>A | XP_016873277.1:p.Val1948Ile | |
| XR_001747885.1:n.5971G>A | ||
| XR_001747886.1:n.5886G>A | ||
| XR_001747887.1:n.5957G>A | ||
| NM_000260.4:c.5866G>A MANE Select | NP_000251.3:p.Val1956Ile | |
| NM_001127180.2:c.5752G>A | NP_001120652.1:p.Val1918Ile | |
| NM_001369365.1:c.5719G>A | NP_001356294.1:p.Val1907Ile |