Linked Data
ClinVar Variation Id:
1444983
ClinVar RCV Id:
RCV001982679
dbSNP Id:
rs756473868
ExAC:
5:131726580 G / A
gnomAD v2:
5-131726580-G-A
gnomAD v3:
5-132390888-G-A
gnomAD v4:
5-132390888-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390888G>A , CM000667.2:g.132390888G>A | GRCh38 |
| NC_000005.9:g.131726580G>A , CM000667.1:g.131726580G>A | GRCh37 |
| NC_000005.8:g.131754479G>A | NCBI36 |
| NG_008982.1:g.26180G>A | |
| NG_008982.2:g.26185G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1092G>A | ENSP00000388838.2:p.Met364Ile | |
| ENST00000435065.7:c.1323G>A | ENSP00000402760.2:p.Met441Ile | |
| ENST00000448810.6:c.*103G>A | ENSP00000401860.2:n.*103G>A | |
| ENST00000685543.1:n.1392G>A | ||
| ENST00000686757.1:c.*415G>A | ENSP00000510721.1:n.*415G>A | |
| ENST00000687740.1:n.3936G>A | ||
| ENST00000688151.1:n.2561G>A | ||
| ENST00000689271.1:c.1098G>A | ENSP00000510797.1:p.Met366Ile | |
| ENST00000690900.1:c.*415G>A | ENSP00000510703.1:n.*415G>A | |
| ENST00000692212.1:n.2863G>A | ||
| ENST00000692355.1:c.504G>A | ||
| ENST00000692413.1:c.1233G>A | ENSP00000509374.1:p.Met411Ile | |
| ENST00000692825.1:c.1319G>A | ENSP00000509447.1:n.1319G>A | |
| ENST00000693308.1:c.1299G>A | ENSP00000509770.1:p.Met433Ile | |
| ENST00000693763.1:n.2411G>A | ||
| ENST00000245407.8:c.1251G>A MANE Select | ENSP00000245407.3:p.Met417Ile | |
| ENST00000245407.7:c.1251G>A | ENSP00000245407.3:p.Met417Ile | |
| ENST00000435065.6:c.1323G>A | ENSP00000402760.2:p.Met441Ile | |
| ENST00000447841.5:c.112-1545G>A | ||
| ENST00000448810.5:c.513G>A | ||
| ENST00000461013.5:n.8673G>A | ||
| ENST00000475308.1:n.1929G>A | ||
| ENST00000479605.5:n.354G>A | ||
| NM_001308122.1:c.1323G>A | NP_001295051.1:p.Met441Ile | |
| NM_003060.3:c.1251G>A | NP_003051.1:p.Met417Ile | |
| XM_011543590.1:c.633G>A | XP_011541892.1:p.Met211Ile | |
| XR_427718.1:n.1611G>A | ||
| XR_948290.1:n.1394-1545G>A | ||
| XR_948291.1:n.1605G>A | ||
| XM_011543590.2:c.633G>A | XP_011541892.1:p.Met211Ile | |
| XM_017009778.2:c.723G>A | XP_016865267.1:p.Met241Ile | |
| XR_001742215.1:n.1506G>A | ||
| XR_001742216.1:n.1525G>A | ||
| XR_427718.2:n.1611G>A | ||
| XR_948290.2:n.1394-1545G>A | ||
| XR_948291.2:n.1605G>A | ||
| NM_003060.4:c.1251G>A MANE Select | NP_003051.1:p.Met417Ile | |
| NM_001308122.2:c.1323G>A | NP_001295051.1:p.Met441Ile |