Linked Data
ClinVar Variation Id:
127314
dbSNP Id:
rs534228737
ExAC:
5:112177982 A / T
gnomAD v2:
5-112177982-A-T
gnomAD v3:
5-112842285-A-T
gnomAD v4:
5-112842285-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842285A>T , CM000667.2:g.112842285A>T | GRCh38 |
| NC_000005.9:g.112177982A>T , CM000667.1:g.112177982A>T | GRCh37 |
| NC_000005.8:g.112205881A>T | NCBI36 |
| NG_008481.4:g.154765A>T , LRG_130:g.154765A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.6745A>T | ENSP00000473355.2:p.Ile2249Phe | |
| ENST00000505350.2:c.*6697A>T | ENSP00000481752.1:n.*6697A>T | |
| ENST00000507379.6:c.6637A>T | ENSP00000423224.2:p.Ile2213Phe | |
| ENST00000509732.6:c.6691A>T | ENSP00000426541.2:p.Ile2231Phe | |
| ENST00000512211.7:c.6691A>T | ENSP00000423828.3:p.Ile2231Phe | |
| ENST00000257430.9:c.6691A>T MANE Select | ENSP00000257430.4:p.Ile2231Phe | |
| ENST00000257430.8:c.6691A>T | ENSP00000257430.4:p.Ile2231Phe | |
| ENST00000508376.6:c.6691A>T | ENSP00000427089.2:p.Ile2231Phe | |
| ENST00000508624.5:c.*6013A>T | ENSP00000424265.1:n.*6013A>T | |
| ENST00000520401.1:c.230+13313A>T | ||
| NM_000038.5:c.6691A>T | NP_000029.2:p.Ile2231Phe | |
| NM_001127510.2:c.6691A>T | NP_001120982.1:p.Ile2231Phe | |
| NM_001127511.2:c.6637A>T | NP_001120983.2:p.Ile2213Phe | |
| NM_001354895.1:c.6691A>T | NP_001341824.1:p.Ile2231Phe | |
| NM_001354896.1:c.6745A>T | NP_001341825.1:p.Ile2249Phe | |
| NM_001354897.1:c.6721A>T | NP_001341826.1:p.Ile2241Phe | |
| NM_001354898.1:c.6616A>T | NP_001341827.1:p.Ile2206Phe | |
| NM_001354899.1:c.6607A>T | NP_001341828.1:p.Ile2203Phe | |
| NM_001354900.1:c.6568A>T | NP_001341829.1:p.Ile2190Phe | |
| NM_001354901.1:c.6514A>T | NP_001341830.1:p.Ile2172Phe | |
| NM_001354902.1:c.6418A>T | NP_001341831.1:p.Ile2140Phe | |
| NM_001354903.1:c.6388A>T | NP_001341832.1:p.Ile2130Phe | |
| NM_001354904.1:c.6313A>T | NP_001341833.1:p.Ile2105Phe | |
| NM_001354905.1:c.6211A>T | NP_001341834.1:p.Ile2071Phe | |
| NM_001354906.1:c.5842A>T | NP_001341835.1:p.Ile1948Phe | |
| NM_000038.6:c.6691A>T MANE Select | NP_000029.2:p.Ile2231Phe | |
| NM_001127510.3:c.6691A>T | NP_001120982.1:p.Ile2231Phe | |
| NM_001127511.3:c.6637A>T | NP_001120983.2:p.Ile2213Phe | |
| NM_001354895.2:c.6691A>T | NP_001341824.1:p.Ile2231Phe | |
| NM_001354896.2:c.6745A>T | NP_001341825.1:p.Ile2249Phe | |
| NM_001354897.2:c.6721A>T | NP_001341826.1:p.Ile2241Phe | |
| NM_001354898.2:c.6616A>T | NP_001341827.1:p.Ile2206Phe | |
| NM_001354899.2:c.6607A>T | NP_001341828.1:p.Ile2203Phe | |
| NM_001354900.2:c.6568A>T | NP_001341829.1:p.Ile2190Phe | |
| NM_001354901.2:c.6514A>T | NP_001341830.1:p.Ile2172Phe | |
| NM_001354902.2:c.6418A>T | NP_001341831.1:p.Ile2140Phe | |
| NM_001354903.2:c.6388A>T | NP_001341832.1:p.Ile2130Phe | |
| NM_001354904.2:c.6313A>T | NP_001341833.1:p.Ile2105Phe | |
| NM_001354905.2:c.6211A>T | NP_001341834.1:p.Ile2071Phe | |
| NM_001354906.2:c.5842A>T | NP_001341835.1:p.Ile1948Phe |