Linked Data
dbSNP Id:
rs534189101
ExAC:
11:9163613 A / C
gnomAD v2:
11-9163613-A-C
gnomAD v3:
11-9142066-A-C
gnomAD v4:
11-9142066-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9142066A>C , CM000673.2:g.9142066A>C | GRCh38 |
| NC_000011.9:g.9163613A>C , CM000673.1:g.9163613A>C | GRCh37 |
| NC_000011.8:g.9120189A>C | NCBI36 |
| NG_053019.1:g.128270T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.3554T>G MANE Select | ENSP00000328524.3:p.Val1185Gly | |
| ENST00000525784.6:n.1416T>G | ||
| ENST00000530780.2:c.*3380T>G | ENSP00000433925.1:n.*3380T>G | |
| ENST00000531747.2:n.3225T>G | ||
| ENST00000679446.1:n.3475T>G | ||
| ENST00000679458.1:n.4955T>G | ||
| ENST00000679460.1:n.4616T>G | ||
| ENST00000679568.1:c.3554T>G | ENSP00000505860.1:p.Val1185Gly | |
| ENST00000679745.1:n.4059T>G | ||
| ENST00000679773.1:n.2715T>G | ||
| ENST00000679926.1:n.4856T>G | ||
| ENST00000679999.1:c.*611T>G | ENSP00000505198.1:n.*611T>G | |
| ENST00000680252.1:c.3221T>G | ||
| ENST00000680294.1:c.3347T>G | ENSP00000506113.1:p.Val1116Gly | |
| ENST00000680358.1:n.2853T>G | ||
| ENST00000680470.1:c.*1335T>G | ENSP00000505975.1:n.*1335T>G | |
| ENST00000680554.1:c.*87T>G | ENSP00000505621.1:n.*87T>G | |
| ENST00000680576.1:n.5030T>G | ||
| ENST00000680599.1:n.3595T>G | ||
| ENST00000680742.1:c.*87T>G | ENSP00000505206.1:n.*87T>G | |
| ENST00000680791.1:n.2438T>G | ||
| ENST00000680885.1:n.5256T>G | ||
| ENST00000681158.1:c.3138T>G | ||
| ENST00000681203.1:c.3482T>G | ENSP00000506456.1:p.Val1161Gly | |
| ENST00000681371.1:n.3426T>G | ||
| ENST00000681425.1:n.4032T>G | ||
| ENST00000681639.1:n.1833T>G | ||
| ENST00000328194.7:c.3554T>G | ENSP00000328524.3:p.Val1185Gly | |
| ENST00000525784.5:c.490T>G | ||
| ENST00000527700.5:n.3116T>G | ||
| ENST00000528725.5:c.250T>G | ||
| ENST00000529977.5:n.1455T>G | ||
| ENST00000530044.5:c.3554T>G | ENSP00000435866.1:p.Val1185Gly | |
| ENST00000531747.1:c.790T>G | ||
| ENST00000533737.5:c.217T>G | ||
| NM_001243254.1:c.3554T>G | NP_001230183.1:p.Val1185Gly | |
| NM_015213.3:c.3554T>G | NP_056028.2:p.Val1185Gly | |
| XM_005252832.1:c.3554T>G | XP_005252889.1:p.Val1185Gly | |
| XM_011519952.1:c.3554T>G | XP_011518254.1:p.Val1185Gly | |
| XM_011519953.1:c.1652T>G | XP_011518255.1:p.Val551Gly | |
| XR_242782.2:n.3736T>G | ||
| XR_930851.1:n.3736T>G | ||
| NM_001348749.1:c.3482T>G | NP_001335678.1:p.Val1161Gly | |
| NM_001348750.1:c.3266T>G | NP_001335679.1:p.Val1089Gly | |
| NR_145966.2:n.3728T>G | ||
| NM_015213.4:c.3554T>G MANE Select | NP_056028.2:p.Val1185Gly | |
| NM_001243254.2:c.3554T>G | NP_001230183.1:p.Val1185Gly | |
| NM_001348749.2:c.3482T>G | NP_001335678.1:p.Val1161Gly | |
| NM_001348750.2:c.3266T>G | NP_001335679.1:p.Val1089Gly |