Linked Data
dbSNP Id:
rs762422835
ExAC:
5:131728192 G / T
gnomAD v2:
5-131728192-G-T
gnomAD v3:
5-132392500-G-T
gnomAD v4:
5-132392500-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132392500G>T , CM000667.2:g.132392500G>T | GRCh38 |
| NC_000005.9:g.131728192G>T , CM000667.1:g.131728192G>T | GRCh37 |
| NC_000005.8:g.131756091G>T | NCBI36 |
| NG_008982.1:g.27792G>T | |
| NG_008982.2:g.27797G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.1176G>T | ENSP00000388838.2:p.Met392Ile | |
| ENST00000435065.7:c.1407G>T | ENSP00000402760.2:p.Met469Ile | |
| ENST00000448810.6:c.*187G>T | ENSP00000401860.2:n.*187G>T | |
| ENST00000685543.1:n.1476G>T | ||
| ENST00000686757.1:c.*499G>T | ENSP00000510721.1:n.*499G>T | |
| ENST00000687740.1:n.4020G>T | ||
| ENST00000688151.1:n.2645G>T | ||
| ENST00000689271.1:c.1182G>T | ENSP00000510797.1:p.Met394Ile | |
| ENST00000690900.1:c.*499G>T | ENSP00000510703.1:n.*499G>T | |
| ENST00000692212.1:n.4475G>T | ||
| ENST00000692355.1:c.588G>T | ||
| ENST00000692413.1:c.1317G>T | ENSP00000509374.1:p.Met439Ile | |
| ENST00000692825.1:c.1403G>T | ENSP00000509447.1:n.1403G>T | |
| ENST00000693308.1:c.1383G>T | ENSP00000509770.1:p.Met461Ile | |
| ENST00000693763.1:n.2495G>T | ||
| ENST00000245407.8:c.1335G>T MANE Select | ENSP00000245407.3:p.Met445Ile | |
| ENST00000245407.7:c.1335G>T | ENSP00000245407.3:p.Met445Ile | |
| ENST00000435065.6:c.1407G>T | ENSP00000402760.2:p.Met469Ile | |
| ENST00000447841.5:c.179G>T | ||
| ENST00000448810.5:c.597G>T | ||
| ENST00000461013.5:n.8757G>T | ||
| ENST00000475308.1:n.2013G>T | ||
| ENST00000479605.5:n.438G>T | ||
| NM_001308122.1:c.1407G>T | NP_001295051.1:p.Met469Ile | |
| NM_003060.3:c.1335G>T | NP_003051.1:p.Met445Ile | |
| XM_011543590.1:c.717G>T | XP_011541892.1:p.Met239Ile | |
| XR_948290.1:n.1461G>T | ||
| XM_011543590.2:c.717G>T | XP_011541892.1:p.Met239Ile | |
| XM_017009778.2:c.807G>T | XP_016865267.1:p.Met269Ile | |
| XR_001742215.1:n.1590G>T | ||
| XR_001742216.1:n.1609G>T | ||
| XR_427718.2:n.1695G>T | ||
| XR_948290.2:n.1461G>T | ||
| XR_948291.2:n.1689G>T | ||
| NM_003060.4:c.1335G>T MANE Select | NP_003051.1:p.Met445Ile | |
| NM_001308122.2:c.1407G>T | NP_001295051.1:p.Met469Ile |