Linked Data
dbSNP Id:
rs554269174
ExAC:
12:54677633 T / G
gnomAD v2:
12-54677633-T-G
gnomAD v3:
12-54283849-T-G
gnomAD v4:
12-54283849-T-G
COSMIC:
COSM941112
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.54283849T>G , CM000674.2:g.54283849T>G | GRCh38 |
| NC_000012.11:g.54677633T>G , CM000674.1:g.54677633T>G | GRCh37 |
| NC_000012.10:g.52963900T>G | NCBI36 |
| NG_033830.1:g.8146T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340913.11:c.945T>G MANE Select | ENSP00000341826.7:p.Phe315Leu | |
| ENST00000550482.2:c.789T>G | ENSP00000446486.2:p.Phe263Leu | |
| ENST00000676472.1:c.77T>G | ||
| ENST00000676572.1:c.171T>G | ||
| ENST00000676707.1:c.92T>G | ||
| ENST00000676725.1:n.1119T>G | ||
| ENST00000676794.1:c.-37T>G | ENSP00000504819.1:n.-37T>G | |
| ENST00000676853.1:c.173T>G | ||
| ENST00000676886.1:c.85-409T>G | ||
| ENST00000676951.1:c.194T>G | ||
| ENST00000677191.1:c.285T>G | ||
| ENST00000677210.1:c.945T>G | ENSP00000503610.1:p.Phe315Leu | |
| ENST00000677220.1:c.132+2347T>G | ENSP00000502987.1:n.132+2347T>G | |
| ENST00000677224.1:c.47T>G | ||
| ENST00000677249.1:c.786T>G | ENSP00000503649.1:p.Phe262Leu | |
| ENST00000677279.1:c.44T>G | ||
| ENST00000677375.1:c.789T>G | ENSP00000503651.1:p.Phe263Leu | |
| ENST00000677385.1:c.*1131T>G | ENSP00000502985.1:n.*1131T>G | |
| ENST00000677518.1:c.38T>G | ||
| ENST00000677539.1:c.327T>G | ||
| ENST00000677636.1:c.131T>G | ||
| ENST00000677778.1:c.75+975T>G | ||
| ENST00000677840.1:c.38T>G | ||
| ENST00000677847.1:c.24+14T>G | ||
| ENST00000677945.1:c.116T>G | ||
| ENST00000678077.1:c.654T>G | ENSP00000504814.1:p.Phe218Leu | |
| ENST00000678212.1:c.133T>G | ||
| ENST00000678279.1:n.67-43T>G | ||
| ENST00000678365.1:n.49-2813T>G | ||
| ENST00000678412.1:c.157-409T>G | ||
| ENST00000678418.1:n.1141T>G | ||
| ENST00000678424.1:c.170T>G | ||
| ENST00000678448.1:c.137T>G | ENSP00000503619.1:p.Leu46Trp | |
| ENST00000678456.1:c.76-409T>G | ||
| ENST00000678513.1:c.65T>G | ||
| ENST00000678581.1:c.173T>G | ||
| ENST00000678597.1:c.62T>G | ||
| ENST00000678611.1:c.179T>G | ||
| ENST00000678873.1:c.113T>G | ||
| ENST00000678876.1:c.131T>G | ||
| ENST00000678934.1:c.92T>G | ||
| ENST00000678970.1:c.157-43T>G | ||
| ENST00000679026.1:c.38T>G | ||
| ENST00000679063.1:c.113T>G | ||
| ENST00000679079.1:c.156+615T>G | ||
| ENST00000679228.1:n.1140T>G | ||
| ENST00000679273.1:c.125T>G | ENSP00000504626.1:p.Leu42Trp | |
| ENST00000679344.1:c.146T>G | ||
| ENST00000330752.12:c.750T>G | ENSP00000333504.8:p.Phe250Leu | |
| ENST00000340913.10:c.945T>G | ENSP00000341826.6:p.Phe315Leu | |
| ENST00000546500.5:c.789T>G | ENSP00000448617.1:p.Phe263Leu | |
| ENST00000547276.5:c.630T>G | ENSP00000447260.1:p.Phe210Leu | |
| ENST00000547566.5:c.789T>G | ENSP00000449913.1:p.Phe263Leu | |
| ENST00000547708.5:c.441T>G | ENSP00000448229.1:p.Phe147Leu | |
| ENST00000550482.1:c.402T>G | ENSP00000446486.1:p.Phe134Leu | |
| ENST00000551679.1:n.127T>G | ||
| NM_002136.2:c.789T>G | NP_002127.1:p.Phe263Leu | |
| NM_031157.2:c.945T>G | NP_112420.1:p.Phe315Leu | |
| XM_005268826.1:c.945T>G | XP_005268883.1:p.Phe315Leu | |
| XR_245923.1:n.1057T>G | ||
| XR_245924.1:n.901T>G | ||
| NM_002136.3:c.789T>G | NP_002127.1:p.Phe263Leu | |
| NM_031157.3:c.945T>G | NP_112420.1:p.Phe315Leu | |
| NR_135167.1:n.907T>G | ||
| XM_005268826.2:c.945T>G | XP_005268883.1:p.Phe315Leu | |
| XR_245923.2:n.1017T>G | ||
| NM_002136.4:c.789T>G | NP_002127.1:p.Phe263Leu | |
| NM_031157.4:c.945T>G MANE Select | NP_112420.1:p.Phe315Leu | |
| NR_135167.2:n.871T>G |